Citations for
Highly Elevated Serum Hepcidin in Patients with Acute Myeloid Leukemia prior to and after Allogeneic Hematopoietic Cell Transplantation: Does This Protect from Excessive Parenchymal Iron Loading?
Eisfeld AK, Westerman M, Krahl R, Leiblein S, Liebert UG, Hehme M, Teupser D, Niederwieser D, Al-Ali HK.
Adv Hematol 2011:491058. Epub 2011 May 5. 2011
Transferrin receptor 2 and HFE regulate furin expression via mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/Erk) signaling. Implications for transferrin-dependent hepcidin regulation.
Poli M, Luscieti S, Gandini V, Maccarinelli F, Finazzi D, Silvestri L, Roetto A, Arosio P.
Haematologica 95(11):1832-40. Epub 2010 Jul 15. 2010
Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice.
Gao J, Chen J, De Domenico I, Koeller DM, Harding CO, Fleming RE, Koeberl DD, Enns CA.
Blood 115(16):3374-81. Epub 2010 Feb 22. 2010
Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression.
Gao J, Chen J, Kramer M, Tsukamoto H, Zhang AS, Enns CA.
Cell Metab 9(3):217-27. 2009
HFE association with transferrin receptor 2 increases cellular uptake of transferrin-bound iron.
Waheed A, Britton RS, Grubb JH, Sly WS, Fleming RE.
Arch Biochem Biophys 474(1):193-7. Epub 2008 Mar 7. 2008
Association of HFE mutations (C282Y and H63D) with iron overload in blood donors from Mexico City.
Baptista-Gonzalez HA, Rosenfeld-Mann F, Trueba-Gomez R, Bermejo-Martinez L, Mendez-Sanchez N.
Ann Hepatol 6(1):55-60. 2007
HFE gene mutations and oxidative stress influence serum ferritin, associated with vascular damage, in hemodialysis patients.
Valenti L, Valenti G, Como G, Burdick L, Santorelli G, Dongiovanni P, Rametta R, Bamonti F, Novembrino C, Fracanzani AL, Messa PG, Fargion S.
Am J Nephrol 27(1):101-7. Epub 2007 Feb 13. 2007
The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population.
Sutedja NA, Sinke RJ, Van Vught PW, Van der Linden MW, Wokke JH, Van Duijn CM, Njajou OT, Van der Schouw YT, Veldink JH, Van den Berg LH.
Arch Neurol 64(1):63-7. 2007
Haemochromatosis gene (HFE) polymorphisms and migraine: an association study.
Rainero I, Rubino E, Rivoiro C, Valfre W, Binello E, Zampella E, De Martino P, Gentile S, Fenoglio P, Savi L, Gallone S, Pinessi L.
Cephalalgia 27(1):9-13. 2007
Genetics of sporadic amyotrophic lateral sclerosis.
Schymick JC, Talbot K, Traynor BJ.
Hum Mol Genet 16 Spec No 2:R233-42. 2007
11HFE, B2M
The hereditary hemochromatosis protein HFE and its chaperone beta2-microglobulin localise predominantly to the endosomal-recycling compartment.
Bhatt L, Horgan CP, Walsh M, McCaffrey MW.
Biochem Biophys Res Commun 359(2):277-84. Epub 2007 May 24. 2007
Expression and Polarized Localization of the Hemochromatosis Gene Product HFE in Retinal Pigment Epithelium.
Martin PM, Gnana-Prakasam JP, Roon P, Smith RG, Smith SB, Ganapathy V.
Invest Ophthalmol Vis Sci 47(10):4238-44. 2006
HFE mutations and risk of coronary heart disease in middle-aged women.
van der A DL, Peeters PH, Grobbee DE, Roest M, Marx JJ, Voorbij HM, van der Schouw YT.
Eur J Clin Invest 36(10):682-90. 2006
Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing.
Goswami T, Andrews NC.
J Biol Chem 281(39):28494-8. Epub 2006 Aug 7. 2006
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.
Livesey KJ, Wimhurst VL, Carter K, Worwood M, Cadet E, Rochette J, Roberts AG, Pointon JJ, Merryweather-Clarke AT, Bassett ML, Jouanolle AM, Mosser A, David V, Poulton J, Robson KJ.
J Med Genet 41(1):6-10. 2004
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
Le Gac G, Scotet V, Ka C, Gourlaouen I, Bryckaert L, Jacolot S, Mura C, Ferec C.
Hum Mol Genet 13(17):1913-8. Epub 2004 Jul 14. 2004
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
Zaahl MG, Merryweather-Clarke AT, Kotze MJ, Van Der Merwe S, Warnich L, Robson KJ.
Hum Genet 115(5):409-17. Epub 2004 Aug 24. 2004
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, McHugh PJ, Chapman RW, Pointon JJ, Wimhurst VL, Livesey KJ, Tanphaichitr V, Rochette J, Robson KJ.
Hum Mol Genet 12(17):2241-7. Epub 2003 Jul 15. 2003
Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis.
Nicolas G, Viatte L, Lou DQ, Bennoun M, Beaumont C, Kahn A, Andrews NC, Vaulont S.
Nat Genet 34(1):97-101. 2003
Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach.
Douabin-Gicquel V, Soriano N, Ferran H, Wojcik F, Palierne E, Tamim S, Jovelin T, McKie AT, Le Gall JY, David V, Mosser J.
Hum Genet 109(4):393-401. 2001
Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene.
Thenie AC, Gicquel IM, Hardy S, Ferran H, Fergelot P, Le Gall JY, Mosser J.
Hum Mol Genet 10(17):1859-66. 2001
Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins.
Whitfield JB, Cullen LM, Jazwinska EC, Powell LW, Heath AC, Zhu G, Duffy DL, Martin NG.
Am J Hum Genet 66(4):1246-58. 2000
Increased incidence of HFE C282Y mutations in patients with iron overload and hepatocellular carcinoma developed in non-cirrhotic liver.
Blanc JF, De Ledinghen V, Bernard PH, de Verneuil H, Winnock M, Le Bail B, Carles J, Saric J, Balabaud C, Bioulac-Sage P.
J Hepatol 32(5):805-11. 2000
Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE.
West AP Jr, Bennett MJ, Sellers VM, Andrews NC, Enns CA, Bjorkman PJ.
J Biol Chem 275(49):38135-8. 2000
Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor.
Bennett MJ, Lebron JA, Bjorkman PJ.
Nature 403(6765):46-53. 2000
Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum.
Waheed A, et al.
Proc Natl Acad Sci U S A 96 : 1579-1584. 1999
Polymorphisms in the HFE gene.
Douabin V, et al.
Hum Hered 49(1):21-6. 1999
Alternate splicing produces a soluble form of the hereditary hemochromatosis protein hfe.
Jeffrey GP, et al.
Blood Cells Mol Dis 25(1):61-7. 1999
Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis.
Salter-Cid L, et al.
Proc Natl Acad Sci U S A 96(10):5434-9. 1999
30B2M, HFE
Atypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysis.
Walker AP, et al.
J Med Genet 36(7):537-41. 1999
Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation.
Brown K, et al.
Br J Haematol 105(1):95-7. 1999
Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis.
Jeffrey GP, et al.
Nat Genet 22(4):325-6. No abstract available 1999
A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.
Wallace DF, et al.
Gastroenterology 116(6):1409-12. 1999
The C282Y mutation causing hereditary hemochromatosis does not produce a null allele.
Levy JE, et al.
Blood 94(1):9-11 1999
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.
Noll WW, et al.
Nat Genet 23(3):271-2. No abstract available 1999
Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland.
Tuomainen TP, Kontula K, Nyyssonen K, Lakka TA, Helio T, Salonen JT.
Circulation 100(12):1274-9 1999
Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR-SSCP : detection of a new polymorphic mutation.
Simonsen K, Dissing J, Rudbeck L, Schwartz M.
Ann Hum Genet 63:193-197 1999
Mutations of the HFE gene and the risk of hepatocellular carcinoma.
Racchi O, Mangerini R, Rapezzi D, Gaetani GF, Nobile MT, Picciotto A, Ferraris AM.
Blood Cells Mol Dis 25(5-6):350-3. 1999
Inherited HFE-unrelated hemochromatosis in Italian families.
Camaschella C, Fargion S, Sampietro M, Roetto A, Bosio S, Garozzo G, Arosio C, Piperno A.
Hepatology 29(5):1563-4. 1999
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.
Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S, Fraquelli M, Sardini C, Vasta F, Gasparini P.
N Engl J Med 341(10):725-32. 1999
Alternate splice variants of the hemochromatosis gene Hfe.
Rhodes DA, Trowsdale J.
Immunogenetics 49(4):357-9. No abstract available. 1999
Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1.
Fleming RE, Migas MC, Zhou X, Jiang J, Britton RS, Brunt EM, Tomatsu S, Waheed A, Bacon BR, Sly WS.
Proc Natl Acad Sci U S A 96(6):3143-8. 1999
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
de Villiers JN, Hillermann R, Loubser L, Kotze MJ.
Hum Mol Genet 8(8):1517-22. Erratum in: Hum Mol Genet 1999 Sep;8(9):1817. 1999
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.
Feder JN, et al.
Proc Natl Acad Sci U S A 95 : 1472-1477. 1998
45HFE, SLC17A1, TRIM10
Generation of a transcription map of a 1Mbase region containing the HFE gene (6p22).
Totaro A, et al.
Eur J Hum Genet 6 : 105-113. 1998
HFE gene knockout produces mouse model of hereditary hemochromatosis.
Zhou XY, et al.
Proc Natl Acad Sci U S A 95 : 2492-2497. 1998
A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region.
Thomas W, et al.
Hum Genet 102 : 517-525. 1998
The hemochromatosis 845 G-A and 187 C-G mutations : prevalence in Non-Caucasian populations.
Cullen LM, et al.
Am J Hum Genet 62 : 1403-1407. 1998
A 6p22 reference map of leukocyte DNA : exclusion of rearrangement in four cases of atypical haemochromatosis.
Wallace DF, Partridge J, Robertson A, Simpson VM, Worwood M, Bomford AB, Volz A, Ziegler A, Dooley JS, Walker AP.
Eur J Hum Genet 6(5):523-6. 1998
Generation of a transcription map distal to HLA-F.
Goldwurm S, et al.
Eur J Hum Genet 6 : 475-486. 1998
Familial porphyria cutanea tarda : characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
Mendez M, Sorkin L, Rossetti MV, Astrin KH, del C Batlle AM, Parera VE, Aizencang G, Desnick RJ.
Am J Hum Genet 63 : 1363-1375. 1998
Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions.
Sanchez M, et al.
Gene 225(1-2):77-87. 1998
Heterogeneity of hemochromatosis in Italy.
Piperno A, Sampietro M, Pietrangelo A, Arosio C, Lupica L, Montosi G, Vergani A, Fraquelli M, Girelli D, Pasquero P, Roetto A, Gasparini P, Fargion S, Conte D, Camaschella C.
Gastroenterology 114(5):996-1002. 1998
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor.
Lebron JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, Mintier GA, Feder JN, Bjorkman PJ.
Cell 93(1):111-23. 1998
46,XX, inv(6)(p21.1-p23) in a pedigree with hereditary haemochromatosis.
Venditti CP, et al.
J Med Genet 34 : 24-27. 1997
Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus.
Ajioka RS, et al.
J Med Genet 34 : 28-33. 1997
Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene.
Hashimoto K, et al.
Biochem Biophys Res Commun 230 : 35-39. 1997
Putting a hold on 'HLA-H'.
Bodmer JG, et al.
Nat Genet 15 : 234-235. 1997
Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract.
Parkkila S, et al.
Proc Natl Acad Sci U S A 94 : 2534-2539. 1997
Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients.
Borot N, et al.
Immunogenetics 45 : 320-324. 1997
The MHC contains multiple genes potentially relevant to hemochromatosis.
Tay GK, et al.
Immunogenetics 45 : 336-340. 1997
Global prevalence of putative haemochromatosis mutations.
Merryweather-Clarke A, et al.
J Med Genet 34 : 275-278. 1997
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
Carella M, et al.
Am J Hum Genet 60 : 828-832. 1997
64D6S1558, D6S1852, D6S1986, D6S2014, D6S2031, D6S2054, D6S2377, HFE
Clone-contig and STA maps of the hereditary hemochromatosis region on human chromosome 6p21.3-p22.
Lauer P, et al.
Genome Res 7 : 457-470. 1997
Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes.
Ajioka RS, Jorde LB, Gruen JR, Yu P, Dimitrova D, Barrow J, Radisky E, Edwards CQ, Griffen LM, Kushner JP.
Am J Hum Genet 60(6):1439-47. 1997
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression.
Feder JN, Tsuchihashi Z, Irrinki A, Lee VK, Mapa FA, Morikang E, Prass CE, Starnes SM, Wolff RK, Parkkila S, Sly WS, Schatzman RC.
J Biol Chem 272(22):14025-8. 1997
Heterogeneity in rates of recombination in the 6-Mb region telomeric to the human major histocompatibility complex.
Malfroy L, Roth MP, Carrington M, Borot N, Volz A, Ziegler A, Coppin H.
Genomics 43(2):226-31. 1997
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
Rhodes DA, Raha-Chowdhury R, Cox TM, Trowsdale J.
J Med Genet 34(9):761-4. 1997
A candidate gene for hemochromatosis : frequency of the C282Y and H63D mutations.
Jouanolle AM, Fergelot P, Gandon G, Yaouanq J, Le Gall JY, David V.
Hum Genet 100(5-6):544-7. 1997
Ethnic differences in the HFE, codon 282 (Cys/Tyr) polymorphism.
Beckman LE, Saha N, Spitsyn V, Van Landeghem G, Beckman L.
Hum Hered 47(5):263-7. 1997
A recombination event close to HFE gene in hereditary hemochromatosis.
Roetto A, Sbaiz L, Bosio S, Piperno A, Fargion S, Carella M, Totaro A, Grifa A, Gasparini P, Camaschella C.
Ann Genet 40(3):150-3. 1997
Hereditary hemochromatosis : effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.
Waheed A, Parkkila S, Zhou XY, Tomatsu S, Tsuchihashi Z, Feder JN, Schatzman RC, Britton RS, Bacon BR, Sly WS.
Proc Natl Acad Sci U S A 94(23):12384-9. 1997
Juvenile and adult hemochromatosis are distinct genetic disorders.
Camaschella C, Roetto A, Cicilano M, Pasquero P, Bosio S, Gubetta L, Di Vito F, Girelli D, Totaro A, Carella M, Grifa A, Gasparini P.
Eur J Hum Genet 5(6):371-5. 1997
A 1200-kilobase transcription map encompassing the D6S105 locus at 6p21.3.
Mosser J, Andrieux N, Fergelot P, Gicquel I, Lelaure V, Galibert F, David V.
Genomics 46(3):487-90. 1997
75BSN, BTN2A1, BTN2A2, BTN3A3, BTN3A2, BTN3A1, HFE, TRIM38, SLC17A1, SLC17A2, SLC17A3, HMGN4
A 1.1-Mb transcript map of the hereditary hemochromatosis locus.
Ruddy DA, Kronmal GS, Lee VK, Mintier GA, Quintana L, Domingo R Jr, Meyer NC, Irrinki A, McClelland EE, Fullan A, Mapa FA, Moore T, Thomas W, Loeb DB, Harmon C, Tsuchihashi Z, Wolff RK, Schatzman RC, Feder JN.
Genome Res 7(5):441-56. 1997
Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region : implications for mapping the hemochromatosis gene (HFE).
Gandon G, et al.
Hum Genet 97 : 103-113. 1996
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
Feder JN, et al.
Nat Genet 13 : 399-408. 1996
Identification of seven new human MHC class I region genes around the HLA-F locus.
Fan W, et al.
Immunogenetics 44 : 97-103. 1996
Haplotype analysis in Australian hemochromatosis patients : evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.
Jazwinska EC, et al.
Am J Hum Genet 56 : 428-433. 1995
New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105.
Raha-Chowdhury R, Bowen DJ, Stone C, Pointon JJ, Terwilliger JD, Shearman JD, Robson KJ, Bomford A, Worwood M.
Hum Mol Genet 4(10):1869-74. 1995
New polymorphisms and markers in the HLA class I region : relevance to hereditary hemochromatosis (HFE).
Totaro A, et al.
Hum Genet 95 : 429-434. 1995
Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis.
Raha-Chowdhury R, et al.
J Med Genet 32 : 446-452. 1995
Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F.
Calandro LM, et al.
Hum Genet 96 : 339-342. 1995
Isolation of novel non-HLA gene fragments from the hemochromatosis region (6p21.3) by cDNA hybridization selection.
Goei VL, et al.
Am J Hum Genet 54 : 244-251. 1994
Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE).
Yaouanq J, et al.
Am J Hum Genet 54 : 252-263. 1994
Mapping recombinant events with molecular markers in hemochromatosis pedigrees.
Radisky ES, et al.
Cytogenet Cell Genet 67 : 126-128. 1994
Mapping and characterization of non-HLA multigene assemblages in the human MHC class I region.
Venditti CP, et al.
Genomics 22 : 257-266. 1994
88HFE, D6S265
A common deletion at D6S265 in the hemochromatosis gene region. (abstr)
Pyper WR, et al.
Am J Hum Genet 55 : A201. 1994
Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis.
Stone C, Pointon JJ, Jazwinska EC, Halliday JW, Powell LW, Robson KJ, Monaco AP, Weatherall DJ.
Hum Mol Genet 3(11):2043-6. 1994
Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis : localization of the gene centromeric to HLA-F.
Gasparini P, et al.
Hum Mol Genet 2 : 571-576. 1993
Localization of the hemochromatosis gene close to D6S105.
Jazwinska EC, et al.
Am J Hum Genet 53 : 347-352. 1993
Isolation and characterization of YAC clones which contain class I HLA genes that map in the vicinity of the hereditary haemochromatosis gene.
Jouet M, et al.
(HGM11) Cytogenet Cell Genet 58 : 1913. 1991
The use of MHC probes in identifying the idiopathic hemochromatosis disease locus.
Chorney MJ, et al.
Am J Hum Genet 49S : 376. 1991
Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.
Borecki IB, et al.
Am J Hum Genet 47 : 542-550. 1990
Ferritin H gene polymorphism in idiopathic hemochromatosis.
David V, Papadopoulos P, Yaouanq J, Blayau M, Abel L, Zappone E, Perichon M, Drysdale J, Le Gall JY, Simon M.
Hum Genet 81 : 123-126. 1989
The HLA class I locus: analysis of RFLPs in hereditary hemochromatosis.
Hansen JL, et al.
Cytogenet Cell Genet 50 : 216-219. 1989
A study of 609 HLA haplotypes marking for the hemochromatosis gene : (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association.
Simon M, Le Mignon L, Fauchet R, Yaouanq J, David V, Edan G, Bourel M.
Am J Hum Genet 41 : 89-105. 1987
Molecular genetic approach to the hemochromatosis gene (HFE).
David V, et al.
(HGM9) Cytogenet Cell Genet 46 : 604. 1987
Mapping the locus for hereditary hemochromatosis : localization between HLA-B and HLA-A.
Edwards CQ, et al.
Am J Hum Genet 38 : 805-811. 1986
DNA polymorphism related to the idiopathic hemochromatosis gene : evidence in a recombinant family.
David V, et al.
Hum Genet 74 : 113-120. 1986
The locus for hereditary hemochromatosis maps between HLA-A and HLA-B.
Edwards CQ, et al.
(HGM8) Cytogenet Cell Genet 40 : 620. 1985
Genetic mapping of the hemochromatosis locus on chromosome six.
Edwards CQ, Cartwright GE, Skolnick MH, Amos DB.
Hum Immunol 1 : 19-22. 1980
Idiopathic hemochromatosis: linkage with HLA.
Lipinski M, et al.
Tissue Antigens 11 : 471-474. 1978
Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing.
Simon M, et al.
N Engl J Med 297 : 1017-1021. 1977