Citations for
1F8, F8D
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function
Lombardi S, Leo G, Merlin S, Follenzi A, McVey JH, Maestri I, Bernardi F, Pinotti M, Balestra D.
Am J Hum Genet. 1 Aug 5;108(8):1512-1525. doi: 10.1016/j.ajhg.2021.06.012. Epub 2021 Jul 8. 2021
2F8, VWF
von Willebrand factor binds to the surface of dendritic cells and modulates peptide presentation of factor VIII.
Sorvillo N, Hartholt RB, Bloem E, Sedek M, ten Brinke A, van der Zwaan C, van Alphen FP, Meijer AB, Voorberg J.
Haematologica 101(3):309-18. doi: 10.3324/haematol.2015.137067. 2016
3F8
Structure of the Human Factor VIII C2 Domain in Complex with the 3E6 Inhibitory Antibody.
Wuerth ME, Cragerud RK, Spiegel PC.
Sci Rep 5:17216. doi: 10.1038/srep17216. 2015
4F8, VWF
Factor VIII Is Synthesized in Human Endothelial Cells, Packaged in Weibel-Palade Bodies and Secreted Bound to ULVWF Strings.
Turner NA, Moake JL.
PLoS One 10(10):e0140740. doi: 10.1371/journal.pone.0140740. 2015
5F8, LRP1
Factor VIII Interacts with the Endocytic Receptor Low-density Lipoprotein Receptor-related Protein 1 via an Extended Surface Comprising "Hot-Spot" Lysine Residues.
van den Biggelaar M, Madsen JJ, Faber JH, Zuurveld MG, van der Zwaan C, Olsen OH, Stennicke HR, Mertens K, Meijer AB.
J Biol Chem 290(27):16463-76. doi: 10.1074/jbc.M115.650911. 2015
6F8, F8D
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.
Santacroce R, Leccese A, Trunzo R, Lassandro G, Giordano P, Ettorre C, Antoncecchi S, Cantori I, Dragani A, Belvini D, Salviato R, Margaglione M.
Thromb Res 135(5):1031-4. doi: 10.1016/j.thromres.2015.01.019. No abstract available. 2015
7F8, F8D, VWF
Interaction between VWF and FVIII in treating VWD.
Miesbach W, Berntorp E.
Eur J Haematol 95(5):449-54. doi: 10.1111/ejh.12514. Review. 2015
8F8, LRP1
Cluster III of low-density lipoprotein receptor-related protein 1 binds activated blood coagulation factor VIII.
Kurasawa JH, Shestopal SA, Woodle SA, Ovanesov MV, Lee TK, Sarafanov AG.
Biochemistry 54(2):481-9. doi: 10.1021/bi5011688. 2015
9F8, F9
Structural insights into the interaction of blood coagulation co-factor VIIIa with factor IXa: a computational protein-protein docking and molecular dynamics refinement study.
Venkateswarlu D.
Biochem Biophys Res Commun 452(3):408-14. doi: 10.1016/j.bbrc.2014.08.078. 2014
10F8
Murine coagulation factor VIII is synthesized in endothelial cells.
Everett LA, Cleuren AC, Khoriaty RN, Ginsburg D.
Blood 123(24):3697-705. doi: 10.1182/blood-2014-02-554501. 2014
11F8
Solution structure of the major factor VIII binding region on von Willebrand factor.
Shiltagh N, Kirkpatrick J, Cabrita LD, McKinnon TA, Thalassinos K, Tuddenham EG, Hansen DF.
Blood 123(26):4143-51. doi: 10.1182/blood-2013-07-517086. 2014
12F8
Plasma factor VIII in non-puerperal cerebral venous thrombosis: a prospective case-control study.
Anadure RK, Nagaraja D, Christopher R.
J Neurol Sci 339(1-2):140-3. doi: 10.1016/j.jns.2014.02.001. 2014
13F8
Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein.
Pahl S, Pavlova A, Driesen J, Oldenburg J.
Thromb Haemost 111(1):58-66. doi: 10.1160/TH13-01-0028. 2014
14F8, F8A1
Factor VIII C1 domain spikes 2092-2093 and 2158-2159 comprise regions that modulate cofactor function and cellular uptake.
Bloem E, van den Biggelaar M, Wroblewska A, Voorberg J, Faber JH, Kjalke M, Stennicke HR, Mertens K, Meijer AB.
J Biol Chem 288(41):29670-9. doi: 10.1074/jbc.M113.473116. Epub 2013 Sep 5. 2013
15F2R, F8
A novel role for factor VIII and thrombin/PAR1 in regulating hematopoiesis and its interplay with the bone structure.
Aronovich A, Nur Y, Shezen E, Rosen C, Zlotnikov Klionsky Y, Milman I, Yarimi L, Hagin D, Rechavi G, Martinowitz U, Nagasawa T, Frenette PS, Tchorsh-Yutsis D, Reisner Y.
Blood 122(15):2562-71. doi: 10.1182/blood-2012-08-447458. 2013
16F8, LDLR
Mapping the binding region on the low density lipoprotein receptor for blood coagulation factor VIII.
Kurasawa JH, Shestopal SA, Karnaukhova E, Struble EB, Lee TK, Sarafanov AG.
J Biol Chem 288(30):22033-41. doi: 10.1074/jbc.M113.468108. 2013
17F5, F8, LMAN1
Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII).
Zheng C, Page RC, Das V, Nix JC, Wigren E, Misra S, Zhang B.
J Biol Chem 288(28):20499-509. doi: 10.1074/jbc.M113.461434. 2013
18F8
Detection of intracellular Factor VIII protein in peripheral blood mononuclear cells by flow cytometry.
Pandey GS, Tseng SC, Howard TE, Sauna ZE.
Biomed Res Int 2013:793502. doi: 10.1155/2013/793502. 2013
19F8, TFPI
Plasmatic tissue factor pathway inhibitor is a major determinant of clotting in factor VIII inhibited plasma or blood.
Knappe S, Gorczyca ME, Jilma B, Derhaschnig U, Hartmann R, Palige M, Scheiflinger F, Dockal M.
Thromb Haemost 109(3):450-7. doi: 10.1160/TH12-07-0529. 2013
20F8
Heme binds to factor VIII and inhibits its interaction with activated factor IX.
Repessé Y, Dimitrov JD, Peyron I, Farrokhi Moshai E, Kiger L, Dasgupta S, Delignat S, Marden MC, Kaveri SV, Lacroix-Desmazes S.
J Thromb Haemost 10(6):1062-71. doi: 10.1111/j.1538-7836.2012.04724.x. 2012
21F8
Functional mapping of the A2 domain from human factor VIII.
Plantier JL, Saboulard D, Pellequer JL, Négrier C, Delcourt M.
Thromb Haemost 107(2):315-27. doi: 10.1160/TH11-07-0492. 2012
22ADAMTS13, F8, VWF
Light chain of factor VIII is sufficient for accelerating cleavage of von Willebrand factor by ADAMTS13 metalloprotease.
Cao W, Sabatino DE, Altynova E, Lange AM, Casina VC, Camire RM, Zheng XL.
J Biol Chem 287(39):32459-66. 2012
23F8
Identification and characterization of mutations in the promoter region of the factor VIII gene.
Zimmermann MA, Meier D, Oldenburg J, Müller CR, Rost S.
J Thromb Haemost 10(2):314-7. doi: 10.1111/j.1538-7836.2011.04574.x. No abstract available. 2012
24F8, F8D
p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it.
Bowyer AE, Goodeve A, Liesner R, Mumford AD, Kitchen S, Makris M.
Br J Haematol 154(5):618-25. doi: 10.1111/j.1365-2141.2011.08688.x. Epub 2011 Jul 14. 2011
25F8
High plasma level of factor VIII: an important risk factor for venous thromboembolism.
Ota S, Yamada N, Ogihara Y, Tsuji A, Ishikura K, Nakamura M, Wada H, Ito M.
Circ J 75(6):1472-5. Epub 2011 Apr 17. 2011
26F8
A membrane-interactive surface on the factor VIII C1 domain cooperates with the C2 domain for cofactor function.
Lü J, Pipe SW, Miao H, Jacquemin M, Gilbert GE.
Blood 117(11):3181-9. Epub 2010 Dec 14. 2011
27F8
Membrane-binding properties of the Factor VIII C2 domain.
Novakovic VA, Cullinan DB, Wakabayashi H, Fay PJ, Baleja JD, Gilbert GE.
Biochem J 435(1):187-96. 2011
28DUPXQ28D, F8
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.
J Med Genet 48(12):840-50. Epub 2011 Oct 8. 2011
29F8
High factor VIII activity, high plasminogen activator inhibitor 1 antigen levels and low factor XII activity contribute to a thrombophilic tendency in elderly venous thromboembolism patients.
Gary T, Hafner F, Froehlich H, Stojakovic T, Scharnagl H, Pilger E, Brodmann M.
Acta Haematol 124(4):214-7. Epub 2010 Nov 12. No abstract available. 2010
30F8, F8D
Characterization of duplication breakpoints in the factor VIII gene.
Zimmermann MA, Oldenburg J, Müller CR, Rost S.
J Thromb Haemost 8(12):2696-704. doi: 10.1111/j.1538-7836.2010.04040.x. 2010
31F8
The B-domain of Factor VIII reduces cell membrane attachment to host cells under serum free conditions.
Kolind MP, Nørby PL, Flintegaard TV, Berchtold MW, Johnsen LB.
J Biotechnol 147(3-4):198-204. Epub 2010 May 6. 2010
32F8, F8D, F9
The factor VIIIa C2 domain (residues 2228-2240) interacts with the factor IXa Gla domain in the factor xase complex.
Soeda T, Nogami K, Nishiya K, Takeyama M, Ogiwara K, Sakata Y, Yoshioka A, Shima M.
J Biol Chem 284(6):3379-88. Epub 2008 Dec 1. 2009
33F8
Factor VIII C1 domain residues Lys 2092 and Phe 2093 contribute to membrane binding and cofactor activity.
Meems H, Meijer AB, Cullinan DB, Mertens K, Gilbert GE.
Blood 114(18):3938-46. Epub 2009 Aug 17. 2009
34F8, F8D
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.
Santacroce R, Acquila M, Belvini D, Castaldo G, Garagiola I, Giacomelli SH, Lombardi AM, Minuti B, Riccardi F, Salviato R, Tagliabue L, Grandone E, Margaglione M; AICE-Genetics Study Group.
J Hum Genet 53(3):275-84. Epub 2008 Jan 23. 2008
35F8, F8D
Molecular characteristics of the intron 22 homologs of the coagulation factor VIII gene: an update.
De Brasi CD, Bowen DJ.
J Thromb Haemost 6(10):1822-4. Epub 2008 Jul 19. Review. No abstract available. 2008
36F8, F8D, VWF
The role of VWF in the immunogenicity of FVIII.
Lacroix-Desmazes S, Repessé Y, Kaveri SV, Dasgupta S.
Thromb Res 122 Suppl 2:S3-6. Review. 2008
37F8
The role of VWF in the immunogenicity of FVIII.
Lacroix-Desmazes S, Repessé Y, Kaveri SV, Dasgupta S.
Thromb Res 122 Suppl 2:S3-6. Review. 2008
38F8, F8D
The protein structure and effect of factor VIII.
Fang H, Wang L, Wang H.
Thromb Res 119(1):1-13. Epub 2006 Feb 17. Review. 2007
39F8, F8D
Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.
Renault NK, Dyack S, Dobson MJ, Costa T, Lam WL, Greer WL.
Eur J Hum Genet 15(6):628-37. Epub 2007 Mar 7. 2007
40F8, F8D, FUNDC2
Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.
Sheen CR, Jewell UR, Morris CM, Brennan SO, FŽrec C, George PM, Smith MP, Chen JM.
Hum Mutat 28(12):1198-206. 2007
41F8, F8A1
A1 subunit-mediated regulation of thrombin-activated factor VIII A2 subunit dissociation.
Parker ET, Doering CB, Lollar P.
J Biol Chem 281(20):13922-30. Epub 2006 Mar 2. 2006
42F8, F8D, VWF
Haemophilia A: from mutation analysis to new therapies.
Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R.
Nat Rev Genet 6(6):488-501. 2005
43F8, F8D
A Novel Mutation (2409delT) in Exon 14 of the Factor VIII Gene Causes Severe Haemophilia A.
Vidal F, Farssac E, Altisent C, Puig L, Gallardo D.
Hum Hered 50(4):266-267. No abstract available. 2000
44F8, F8A1, F8D
A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene.
Tavassoli K, et al.
Hum Genet 104(5):435-7. 1999
45F8, F8D
Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice.
Valleix S, et al.
Hum Mol Genet 8(7):1291-301. 1999
46F8, F8D
Long-term expression of human coagulation factor VIII and correction of hemophilia A after in vivo retroviral gene transfer in factor VIII-deficient mice.
VandenDriessche T, Vanslembrouck V, Goovaerts I, Zwinnen H, Vanderhaeghen ML, Collen D, Chuah MK.
Proc Natl Acad Sci U S A 96(18):10379-84. 1999
47F8, F8D
The missense mutation Arg593 --> Cys is related to antibody formation in a patient with mild hemophilia A.
Fijnvandraat K, Turenhout EA, van den Brink EN, ten Cate JW, van Mourik JA, Peters M, Voorberg J.
Blood 89(12):4371-7. 1997
48F8, F8D
Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations.
Tavassoli K, Eigel A, Pollmann H, Horst J.
Hum Genet 100(5-6):508-11. 1997
49F8, F8D, FLNA
A compositional map of human chromosome band Xq28.
De Sario A, et al.
Proc Natl Acad Sci U S A 93 : 1298-1302. 1996
50F8, F8D
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A : family studies indicate a mutation type-dependent sex ratio of mutation frequencies.
Becker J, et al.
Am J Hum Genet 58 : 657-670. 1996
51F5TPH, F8, F8D
Moderation of hemophilia A phenotype by the factor V R506Q mutation.
Nichols WC, et al.
Blood 88 : 1183-1187. 1996
52F8, F8D, MTCP1
Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia.
Brinke A, et al.
Hum Mol Genet 5 : 1945-1951. 1996
53F8, F8D
Factor VIII gene inversions in severe hemophilia A : results of an international consortium study.
Antonarakis SE, et al.
Blood 86 : 2206-2212. 1995
54F8, F8D
Molecular etiology of factor VIII deficiency in hemophilia A.
Antonarakis SE, et al.
Hum Mutat 5 : 1-22. 1995
55F8, F8D
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells.
Pratt Rossiter J, et al.
Hum Mol Genet 3 : 1035-1039. 1994
56F8, F8D
A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient.
Murru S, et al.
Genomics 23 : 352-361. 1994
57F8, F8D
Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A.
Windsor S, et al.
Blood 84 : 2202-2205. 1994
58F8, F8A1, F8D
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.
Lakich D, et al.
Nat Genet 5 : 236-241. 1993
59F8, F8D
Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions.
Naylor J, et al.
Hum Mol Genet 2 : 1773-1778. 1993
60F8, F8D
Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A.
Oldenburg J, et al.
Am J Hum Genet 53 : 1229-1238. 1993
61F8, F8D
Severe hemophilia A in a female by cryptic translocation : order and orientation of factor VIII within Xq28.
Migeon BR, et al.
Genomics 16 : 20-25. 1993
62F8, F8D
Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.
McGinniss MJ, et al.
Genomics 15 : 392-398. 1993
63F8, F8D
Hemophilia A due to mutations that create new N-glycosylation sites.
Aly AM, et al.
Proc Natl Acad Sci U S A 89 : 4933-4937. 1992
64DXS115, F8, F8D
A 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus.
Freije D, et al.
Am J Hum Genet 51 : 66-80. 1992
65F8, F8D
Factor VIII gene explains all cases of haemophilia A.
Naylor JA, et al.
Lancet 340 : 1066-1067. 1992
66F8, F8D
Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.
Reiner AP, et al.
Hum Genet 89 : 88-94. 1992
67F8, F8A1, F8D
Evidence for a third transcript from the human factor VIII gene.
Levinson B, et al.
Genomics 14 : 585-589. 1992
68BRCC3, DXS551E, F8, F8D
Isolation and sequence of two genes associated with a CpG island 5' of the factor VIII gene.
Kenwrick S, Levinson B, Taylor S, Shapiro A, Gitschier J.
Hum Mol Genet 1(3):179-86. 1992
69F8, F8D
A Taql polymorphism adjacent to the factor VIII gene (F8C).
Kenwrick S, et al.
Nucleic Acids Res 19 : 2513. 1991
70F8, F8D
Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.
Higuchi M, et al.
Proc Natl Acad Sci U S A 88 : 7405-7409. 1991
71F8, F8D
Molecular characterization of mild-to-moderate hemophilia A : detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.
Higuchi M, et al.
Proc Natl Acad Sci U S A 88 : 8307-8311. 1991
72F8
Physical map of human Xq27-qter: localizing the region of the fragile X mutation.
Poustka A, et al.
Proc Natl Acad Sci U S A 88 : 8302-8306. 1991
73F8
Haemophilia A : database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.
Tuddenham EGD, et al.
Nucleic Acids Res 19 : 4821-4833. 1991
74F8, F8D
Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions.
Millar DS, et al.
Hum Genet 87 : 99-100. 1991
75F8, F8D
Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene.
Lalloz MRA, et al.
Lancet 338 : 207-211. 1991
76F8
Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.
Trask BJ, et al.
Am J Hum Genet 48 : 1-15. 1991
77F8, F8D
Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.
Woods-Samuels P, et al.
Genomics 10 : 94-101. 1991
78F8A1, F8
A transcribed gene in an intron of the human factor VIII gene.
Levinson B, et al.
Genomics 7 : 1-11. 1990
79F8, F8D
Simple and convenient detection of a HindIII polymorphic site in intron 19 of factor VIII using PCR.
Surin VL, et al.
Nucleic Acids Res 18 : 3432. 1990
80F8, F8D
Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.
Higuchi M, et al.
Genomics 6 : 65-71. 1990
81F8, F8D
Mutatiuons and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.
Kogan S, et al.
Proc Natl Acad Sci U S A 87 : 2092-2096. 1990
82F8, F8D
The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene.
Pattinson JK, et al.
Blood 76 : 2242-2248. 1990
83F8, F8D
Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus.
Jedlicka P, et al.
Hum Genet 85 : 315-318. 1990
84F8
A BstXI polymorphism detected by the factor VIII genomic probe p.482.6 (F8C).
Taylor SAM, et al.
Nucleic Acids Res 17 : 6426. 1989
85F8
Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements.
Woods-Samuels P, et al.
Genomics 4 : 290-296. 1989
86DXS115, F8
An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767).
Patterson M, et al.
Am J Hum Genet 44 : 679-685. 1989
87G6PD, F8, RGCP@, DXYS61X, DXYS61Y, DXYS64X, DXYS64Y
Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region.
Arveiler B, et al.
Genomics 4 : 460-471. 1989
88F8, F8D
Accurate prenatal diagnosis with novel polymerase chain reaction primers in a family with sporadic hemophilia A.
Sarkar G, et al.
Obstet Gynecol 74 : 414-417. 1989
89F8, F8D, F9
Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers.
Winship PR, et al.
Lancet I : 631-634. 1989
90F8, F8D, F9
The molecular genetics of hemophilia A and B in man: factor VIII and factor IX deficiency.
Antonarakis SE.
Adv Hum Genet 17 : 27-55. 1988
91F8, F8D
Mutations of factor VIII cleavage sites in hemophilia B.
Gitschier J, et al.
Blood 72 : 1022-1028. 1988
92F8, F8D
Nonsense and missense mutations in hemophilia A : estimate of the relative mutation rate at CG dinucleotides.
Youssoufian H, et al.
Am J Hum Genet 42 : 718-725. 1988
93F8, F8D
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.
Kazazian HH, et al.
Nature 332 : 164-166. 1988
94F8, DXS15
Linkage analysis of two RFLPs closely linked to the F8C gene.
Lehesjoki AE, et al.
(HGM9) Cytogenet Cell Genet 46 : 646. 1987
95DXS15, DXS52, F8, F8D
Haemophilia A, F8C, DXS15 and DXS52 : establishement of order and evidence for a familial predisposition to crossover.
Bhattacharya SS, et al.
(HGM9) Cytogenet Cell Genet 46 : 580. 1987
96F8, F8D, FRAXA
Genetic order of Xq27-q28 RFLP markers established in Fra(X) and Hem A families.
Carpenter NJ, et al.
(HGM9) Cytogenet Cell Genet 46 : 590. 1987
97DXS15, DXS52, F8, F8D
RFLPs in the coagulation factor VIII C gene (F8C) and at linked probe sites (DXS15 and DXS52) in the normal and hemophilic population of Algeria.
Nafa K, et al.
(HGM9) Cytogenet Cell Genet 46 : 666. 1987
98F8
Further evaluation of the linkage between hemophilia A and flanking polymorphic DNA markers.
Vidaud M, et al.
(HGM9) Cytogenet Cell Genet 46 : 709. 1987
99F8, F8D, VWF
RFLPs studies in coagulation FVIII and von Willebrand factors.
Bernardi F, et al.
(HGM9) Cytogenet Cell Genet 46 : 580. 1987
100F8
An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences.
Kogan SC, et al.
N Engl J Med 317 : 985-990. 1987
101F8, F8D
A new HindIII restriction fragment length polymorphism in the hemophilia A locus.
Ahrens P, et al.
Hum Genet 76 : 127-128. 1987
102F8, FRAXA, G6PD
Detailed ordering of markers localising to the Xq26-Xqter region of the human X chromosome by the use of an interspecific Mus spretus mouse cross. Characterization of a panel of somatic cell hybrids for regional mapping of the mouse X chromosome.
Avner P, et al.
Proc Natl Acad Sci U S A 84 : 5330-5334. 1987
103F8, F8D
Genotype assignment of haemophilia A by use of intragenic and extragenic restriction fragment length polymorphisms.
Bršcker-Vriends AHJT, et al.
Thromb Haemost 57 : 131-136. 1987
104DXS52, F8, F8D
Recombination within DXS52 (ST14) locus in family with haemophilia A.
Kirk HE, et al.
Lancet I : 560-561. 1987
105F8
MspI polymorphism in the 3' flanking region of the human factor VIII gene.
Youssoufian H, et al.
Nucleic Acids Res 15 : 6312. 1987
106DXS98, DXS105, DXS152, DXS115, F8, G6PD
Physical mapping studies on the human X chromosome in the region Xq27-Xqter.
Patterson M, et al.
Genomics 1 : 297-306. 1987
107DXS102, DXS107, DXS15, DXS51, DXS52, F8, F8D, F9, FRAXA
Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions.
Connor JM, et al.
J Med Genet 24 : 14-22. 1987
108F8, F8D
Classic hemophilia in a female with X/17 complex translocation and partial deletion of the long arm of X chromosome (Xq11-q13).
Muneer RS, et al.
Am J Hum Genet 39 : A126. 1986
109F8, F8D
Physical mapping of the factor VIII gene proximal to two polymorphic DNA probes in human chromosome band Xq28 : implications for factor VIII gene segregation analysis.
Tantravahi U, et al.
Cytogenet Cell Genet 42 : 75-79. 1986
110F8, F8D
A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.
Wion KL, et al.
Nucleic Acids Res 14 : 4535-4542. 1986
111F8, F8D
A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes.
Gilgenkrantz S, et al.
Hum Genet 72 : 157-159. 1986
112F8, F8D
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.
Youssoufian H, et al.
Nature 324 : 380-382. 1986
113F8, F8D
Carrier testing strategy in haemophilia A.
Janco RL, et al.
Lancet I : 148-149. 1986
114DXS52, F8, F8D
Genetic screening for hemophilia A (classic hemophilia) with apolymorphic DNA probe.
OberlŽ I, et al.
N Engl J Med 312 : 682-686. 1985
115DXS15, DXS52, F8, F8D, F9
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116F8, F8D
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Nature 314 : 738-740. 1985
117F8, F8D
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Gitschier J, et al.
Nature 315 : 427-430. 1985
118F8, F8D
Molecular cloning of a cDNA encoding human antihaemophilic factor.
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Nature 312 : 342-347. 1984