A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis

Clinical Genetics

Volumn 65, Issue 5, 2004, Pages 378-383

  Delatycki, Martin B ^a   Allen, K J ^a,b   Gow, P ^c   MacFarlane, J ^d   Radomski, C ^d   Thompson, J ^d   Hayden, M R ^d   Goldberg, Y P ^d   Samuels, M E ^d  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c AUSTIN HEALTH   (Australia)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

HAMP; Hepcidin; Juvenile hemochromatosis; Pseudo dominant

Indexed keywords

ADENINE; CYSTEINE; CYTOSINE; GUANINE; HEPCIDIN; HFE PROTEIN; IRON; TYROSINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CHROMOSOME 1Q; CONSANGUINITY; DIABETES MELLITUS; ENZYME ACTIVITY; FAMILY STUDY; FATHER; FEMALE; GENE ACTIVITY; GENE DISRUPTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IRON OVERLOAD; MALE; MORBIDITY; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 2442715055     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00254.x     Document Type: Article

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