Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene

Internal Medicine

Volumn 40, Issue 6, 2001, Pages 479-483

  Imanishi, Hiroyasu ^a   Liu, Weidong ^b   Cheng, Jidong ^b   Ikeda, Naoto ^a   Amuro, Yoshiki ^a   Hada, Toshikazu ^a  

^a HYOGO COLLEGE OF MEDICINE   (Japan)

^b SHANTOU UNIVERSITY MEDICAL COLLEGE   (China)

Author keywords

C282Y; Point mutation; RT PCR

Indexed keywords

ALANINE; HFE PROTEIN, HUMAN; HLA ANTIGEN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; VALINE;

ARTICLE; CASE REPORT; GENETICS; HEMOCHROMATOSIS; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; MUTATION;

ALANINE; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; VALINE;

EID: 0035380052     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.40.479     Document Type: Article

References (15)

1. Feder JN, Gnirke A, Thomas W. et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13: 399-408, 1996.
2. Jazwiska EC, Cullen LM, Busfield F, et al. Haemochromatosis and HLA-H. Nat Genet 14: 249-251, 1996.
3. Jouanolle AM, Gandon G. Jézéquel P, et al. Haemochromatosis and HLA-H. Nat Genet 14: 251-252, 1996.
4. Brissot P, Moirand R, Jouanolle AM, et al. A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria. J Hepalol 30: 588-593, 1999.
5. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJH. Global prevalence of putative haemochromatosis mutations. J Med Genet 34: 275-278, 1997.
6. Oliver M, Scully L, Guiraudon C, Adams PC. Non-HLA-linked hemochromatosis in a chinese woman. Dig Dis Sci 40: 1589-1591, 1995.
7. Sonda T, Yanai J, Soejima H, Tamura K. Frequencies in the Japanese population of HFE gene mutations. Biochemical Genet 37: 63-68, 1999.
8. Piperno A, Sampietro M, Pietrangelo A, et al. Heterogenity of hemochromatosis on Italy. Gastroenterology 114: 996-1002, 1998.
9. Carella MD, Ambrosio L, Totaro A, et al. Mutation analysis of the HLA-H gene in Italian hemochromalosis patients. Am J Hum Genet 60: 828-832, 1997.
10. Hattori K, Hayashi H, Takikawa T, et al. No HLA-H mutation (845G to A) in Japanese patients with hemochromatosis. Hepatology 26: 522A, 1997.
11. Scheuer PJ, Williams R, Muir AR. Hepatic pathology in relatives of patients with hemochromatosis. J Path Bact 84: 53-64, 1962.
12. Beutler E, West C, Gelbart T. HLA-H and associated proteins in patients with hemochromatosis. Mol Med 3: 397-402, 1997.
13. Douahin V, Moirand R, Jouanolle AM, et al. Polymorphisms in HFE gene. Hum Hered 49: 21-26, 1999.
14. Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis. Blood 93: 2502-2505, 1999.
15. Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Eng J Med 335: 1799-1805, 1966.