Long term follow-up of two cases of hemochromatosis respectively homozygous for the His63Asp and Cys282Tyr mutations;Suivi a long terme de deux cas d'hemochromatose homozygotes respectivement pour les mutations His63Asp et Cys282Tyr

Schweizerische Medizinische Wochenschrift

Volumn 127, Issue 45, 1997, Pages 1867-1870

  Samii, K ^a   Darbellay, R ^a   Trachsel, H ^a   Beris, P ^a,b  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIVERSITY OF GENEVA   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; FERRITIN BLOOD LEVEL; FOLLOW UP; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HUMAN; IRON BLOOD LEVEL; IRON OVERLOAD; MALE; PHLEBOTOMY; BLOOD; GENETICS; HOMOZYGOTE; METABOLISM; MIDDLE AGED; NUCLEOTIDE SEQUENCE;

FERRITIN; HLA A ANTIGEN; IRON;

DNA MUTATIONAL ANALYSIS; FERRITINS; HEMOCHROMATOSIS; HLA-A ANTIGENS; HOMOZYGOTE; HUMANS; IRON; MALE; MIDDLE AGED; PHLEBOTOMY;

EID: 0031560139     PISSN: 00367672     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA et al.: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13: 399-408.
2. Jouanolle AM, Gandon G, Jézéquel P, Blayau M, Campion ML et al.: Correspondence: Haemochromatosis and HLA-H. Nat Genet 1996; 14: 251-252.
3. Beutler E, Gelbart T, West C, Lee P, Adams M et al.: Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996; 16: 187-194.
4. Robert AG, Whatley SD, Morgan RR, Worwood M, Elder GH: Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349: 321-323.
5. Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI et al.: Correspondence: Haemochromatosis and HLA-H. Nat Genet 1996; 14: 249-251.
6. Beutler E: Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations. Lancet 1997; 349: 296-297.