Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis

Journal of Medical Genetics

Volumn 34, Issue 9, 1997, Pages 761-764

  Rhodes, D A ^a,c   Raha Chowdhury, R ^b   Cox, T M ^c   Trowsdale, J ^a  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Hereditary haemochromatosis; HLA; Iron metabolism

Indexed keywords

ASPARTIC ACID; CYSTEINE; HISTIDINE; IRON; TYROSINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; CASE REPORT; FEMALE; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; IRON BLOOD LEVEL; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0030884018     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.9.761     Document Type: Article

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