Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R

Acta Haematologica

Volumn 115, Issue 1-2, 2006, Pages 102-105

  Lee, Pauline L ^a   Barton, James C ^b,c,d  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c and Clinical Center   (United States)

^d NONE   (United States)

Author keywords

HFE H63D; Transferrin receptor 2

Indexed keywords

TRANSFERRIN RECEPTOR 2;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; DNA POLYMORPHISM; EXON; GENE MUTATION; GENETIC ASSOCIATION; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; IRON OVERLOAD; LABORATORY TEST; MALE; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; EXONS; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, TRANSFERRIN;

EID: 31144454607     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000089474     Document Type: Article

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