Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene

Postgraduate Medical Journal

Volumn 73, Issue 863, 1997, Pages 573-574

  Aslam, S ^a   Standen, G R ^a  

^a BRISTOL ROYAL INFIRMARY   (United Kingdom)

Author keywords

Haemochromatosis; Iron accumulation; Polymerase chain reaction

Indexed keywords

CYSTEINE; IRON; RESTRICTION ENDONUCLEASE; TYROSINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; FEMALE; HEMOCHROMATOSIS; HLA SYSTEM; HUMAN; HUMAN CELL; IRON METABOLISM; MISSENSE MUTATION; POLYMERASE CHAIN REACTION;

EID: 0030828464     PISSN: 00325473     EISSN: None     Source Type: Journal    
DOI: 10.1136/pgmj.73.863.573     Document Type: Article

References (2)

1. Cox TM. Haemochromatosis. Blood Rev 1990; 4: 75-87.
2. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.