A previously undescribed frameshift deletion mutation of HFE (c.de1277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote

Clinical Genetics

Volumn 66, Issue 3, 2004, Pages 214-216

  Barton, James C ^a,b,d   West, C ^c   Lee, P L ^c   Beutler, E ^c  

^a SOUTHERN IRON DISORDERS CENTER   (United States)

^b Heerskink School of Medicine   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d NONE   (United States)

Author keywords

Frameshift mutation; G93fs; Hemochromatosis; HFE; HFE C282Y; Iron; Iron overload

Indexed keywords

FERRITIN; FERROPORTIN 1; HEMOGLOBIN A1C; HFE PROTEIN; HLA A ANTIGEN; TRANSFERRIN;

ADULT; ARTICLE; CASE REPORT; DELETION MUTANT; EXON; FERRITIN BLOOD LEVEL; FRAMESHIFT MUTATION; HEMATOLOGICAL PARAMETERS; HEMOCHROMATOSIS; HEMOGLOBIN DETERMINATION; HETEROZYGOSITY; HLA TYPING; HUMAN; HUMAN TISSUE; IRON DEPLETION; IRON OVERLOAD; LABORATORY TEST; LIVER BIOPSY; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; PHLEBOTOMY; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; STOP CODON; TRANSFERRIN BLOOD LEVEL;

AMINO ACID SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FRAMESHIFT MUTATION; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HLA ANTIGENS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

RAPHIA FRATER;

EID: 3042553275     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00285.x     Document Type: Article

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