Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4

Internal Medicine Journal

Volumn 45, Issue 6, 2015, Pages 672-676

  Chen, S R ^a,b   Yang, L Q ^c   Chong, Y T ^a,b   Jie, Y S ^a,b   Wu, Y K ^a,b   Yang, J ^c   Lin, G L ^a,b   Li, X H ^a,b  

^a THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIVERSITY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

^c The First People's hospital of YueYang   (China)

Author keywords

Chinese; Ferroportin disease; Hereditary haemochromatosis type 4; Mutation; SLC40A1

Indexed keywords

FERRITIN; FERROPORTIN; GENOMIC DNA; IRON; TRANSFERRIN; CATION TRANSPORT PROTEIN; METAL TRANSPORTING PROTEIN 1;

AGED; ANOREXIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE DURATION; FATIGUE; FEMALE; FERRITIN BLOOD LEVEL; GAIN OF FUNCTION MUTATION; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GLUCOSE BLOOD LEVEL; HAN CHINESE; HEMOCHROMATOSIS; HEPATOSPLENOMEGALY; HEREDITARY HEMOCHROMATOSIS TYPE 4; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; INTERNATIONAL NORMALIZED RATIO; IRON BLOOD LEVEL; IRON OVERLOAD; LIVER BIOPSY; LIVER CIRRHOSIS; MEAN CORPUSCULAR VOLUME; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ORAL GLUCOSE TOLERANCE TEST; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SLC40A1 GENE; UPPER GASTROINTESTINAL BLEEDING; AMINO ACID SEQUENCE; DEFICIENCY; GENETICS; MOLECULAR GENETICS; MUTATION; PEDIGREE; PROTEIN SECONDARY STRUCTURE;

AGED; AMINO ACID SEQUENCE; CATION TRANSPORT PROTEINS; FEMALE; HEMOCHROMATOSIS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN STRUCTURE, SECONDARY;

EID: 84930578605     PISSN: 14440903     EISSN: 14455994     Source Type: Journal    
DOI: 10.1111/imj.12764     Document Type: Article

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