1 | F8, 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
|
2 | F8, 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
|
3 | F8
|
| 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
|
4 | F8, 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
|
5 | F8, 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
|
6 | F8, 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
|
7 | F8, 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
|
8 | F8, 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
|
9 | F8, 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
|
10 | F8
|
| 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
|
11 | F8
|
| 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
|
12 | F8
|
| 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
|
13 | F8
|
| 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
|
14 | F8, 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
|
15 | F2R, 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
|
16 | F8, 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
|
17 | F5, 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
|
18 | F8
|
| 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
|
19 | F8, 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
|
20 | F8
|
| 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
|
21 | F8
|
| 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
|
22 | ADAMTS13, 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
|
23 | F8
|
| 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
|
24 | F8, 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
|
25 | F8
|
| 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
|
26 | F8
|
| 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
|
27 | F8
|
| 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
|
28 | DUPXQ28D, 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
|
29 | F8
|
| 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
|
30 | F8, 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
|
31 | F8
|
| 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
|
32 | F8, 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
|
33 | F8
|
| 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
|
34 | F8, 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
|
35 | F8, 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
|
36 | F8, 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
|
37 | F8
|
| 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
|
38 | F8, 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
|
39 | F8, 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
|
40 | F8, 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
|
41 | F8, 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
|
42 | F8, 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
|
43 | F8, 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
|
44 | F8, 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
|
45 | F8, 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
|
46 | F8, 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
|
47 | F8, 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
|
48 | F8, 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
|
49 | F8, 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
|
50 | F8, 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
|
51 | F5TPH, F8, F8D
|
| Moderation of hemophilia A phenotype by the factor V R506Q mutation.
|
| Nichols WC, et al.
|
| Blood 88 : 1183-1187. 1996
|
52 | F8, 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
|
53 | F8, F8D
|
| Factor VIII gene inversions in severe hemophilia A : results of an international consortium study.
|
| Antonarakis SE, et al.
|
| Blood 86 : 2206-2212. 1995
|
54 | F8, F8D
|
| Molecular etiology of factor VIII deficiency in hemophilia A.
|
| Antonarakis SE, et al.
|
| Hum Mutat 5 : 1-22. 1995
|
55 | F8, 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
|
56 | F8, 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
|
57 | F8, 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
|
58 | F8, 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
|
59 | F8, 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
|
60 | F8, 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
|
61 | F8, 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
|
62 | F8, F8D
|
| Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.
|
| McGinniss MJ, et al.
|
| Genomics 15 : 392-398. 1993
|
63 | F8, 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
|
64 | DXS115, 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
|
65 | F8, F8D
|
| Factor VIII gene explains all cases of haemophilia A.
|
| Naylor JA, et al.
|
| Lancet 340 : 1066-1067. 1992
|
66 | F8, 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
|
67 | F8, F8A1, F8D
|
| Evidence for a third transcript from the human factor VIII gene.
|
| Levinson B, et al.
|
| Genomics 14 : 585-589. 1992
|
68 | BRCC3, 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
|
69 | F8, F8D
|
| A Taql polymorphism adjacent to the factor VIII gene (F8C).
|
| Kenwrick S, et al.
|
| Nucleic Acids Res 19 : 2513. 1991
|
70 | F8, 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
|
71 | F8, 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
|
72 | F8
|
| 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
|
73 | F8
|
| 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
|
74 | F8, F8D
|
| Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions.
|
| Millar DS, et al.
|
| Hum Genet 87 : 99-100. 1991
|
75 | F8, 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
|
76 | F8
|
| 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
|
77 | F8, F8D
|
| Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.
|
| Woods-Samuels P, et al.
|
| Genomics 10 : 94-101. 1991
|
78 | F8A1, F8
|
| A transcribed gene in an intron of the human factor VIII gene.
|
| Levinson B, et al.
|
| Genomics 7 : 1-11. 1990
|
79 | F8, 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
|
80 | F8, 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
|
81 | F8, 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
|
82 | F8, 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
|
83 | F8, 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
|
84 | F8
|
| A BstXI polymorphism detected by the factor VIII genomic probe p.482.6 (F8C).
|
| Taylor SAM, et al.
|
| Nucleic Acids Res 17 : 6426. 1989
|
85 | F8
|
| 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
|
86 | DXS115, 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
|
87 | G6PD, 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
|
88 | F8, 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
|
89 | F8, F8D, F9
|
| Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers.
|
| Winship PR, et al.
|
| Lancet I : 631-634. 1989
|
90 | F8, 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
|
91 | F8, F8D
|
| Mutations of factor VIII cleavage sites in hemophilia B.
|
| Gitschier J, et al.
|
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92 | F8, F8D
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93 | F8, F8D
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94 | F8, DXS15
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95 | DXS15, DXS52, F8, F8D
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96 | F8, F8D, FRAXA
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97 | DXS15, DXS52, F8, F8D
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98 | F8
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99 | F8, F8D, VWF
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100 | F8
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101 | F8, F8D
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102 | F8, FRAXA, G6PD
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103 | F8, F8D
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104 | DXS52, F8, F8D
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105 | F8
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106 | DXS98, DXS105, DXS152, DXS115, F8, G6PD
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107 | DXS102, DXS107, DXS15, DXS51, DXS52, F8, F8D, F9, FRAXA
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108 | F8, F8D
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109 | F8, F8D
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110 | F8, F8D
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111 | F8, F8D
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112 | F8, F8D
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113 | F8, F8D
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114 | DXS52, F8, F8D
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115 | DXS15, DXS52, F8, F8D, F9
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116 | F8, F8D
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| Nature 314 : 738-740. 1985
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117 | F8, F8D
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| Detection and sequence of mutations in the factor VIII gene ofhaemophiliacs.
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118 | F8, F8D
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