The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis

Blood

Volumn 101, Issue 9, 2003, Pages

  Beutler, Ernest ^a   Kushner, James P ^b  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EUROPE; GENE MUTATION; GENOME; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MORTALITY; NONHUMAN; PHENOTYPE; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; REVIEW; UNITED STATES; ADULT; AGED; AMINO ACID SUBSTITUTION; BLOOD; CODON; COHORT ANALYSIS; ENVIRONMENT; FEMALE; FORECASTING; GENETIC EPISTASIS; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MALE; MIDDLE AGED; MISSENSE MUTATION; NORWAY; PATHOPHYSIOLOGY; PENETRANCE; PHYSIOLOGY; POINT MUTATION;

HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; IRON; MEMBRANE PROTEIN; TRANSFERRIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; CALIFORNIA; CODON; COHORT STUDIES; ENVIRONMENT; EPISTASIS, GENETIC; FEMALE; FORECASTING; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; IRON; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; NORWAY; PENETRANCE; POINT MUTATION; PREVALENCE; TRANSFERRIN;

EID: 0038542813     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-06-1747     Document Type: Review

References (0)