SLC40A1 c.1402G→A results in aberrant splicing, ferroportin truncation after glycine 330, and an autosomal dominant hemochromatosis phenotype

Acta Haematologica

Volumn 118, Issue 4, 2008, Pages 237-241

  Lee, Pauline L ^a   Gelbart, Terri ^a   West, Carol ^a   Barton, James C ^b,c,d  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c University of Alabama at Birmingham   (United States)

^d SOUTHERN IRON DISORDERS CENTER   (United States)

Author keywords

Diabetes mellitus; Hepatocyte; Iron overload; Kupffer cell; Transferrin saturation

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; FERROPORTIN; GLYCINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; DIABETES MELLITUS; DNA SEQUENCE; EXON; GEL ELECTROPHORESIS; GENE; GENE AMPLIFICATION; GENE MUTATION; HEMOCHROMATOSIS; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MONONUCLEAR CELL; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; RNA SPLICING; SLC40A1 GENE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CATION TRANSPORT PROTEINS; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; GENES, DOMINANT; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHLEBOTOMY; POINT MUTATION; RNA SPLICING;

EID: 38749083019     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000112830     Document Type: Article

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