A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis

European Journal of Heart Failure

Volumn 10, Issue 10, 2008, Pages 1001-1006

  Nagayoshi, Yasuhiro ^a   Nakayama, Masafumi ^a   Suzuki, Satoru ^a   Hokamaki, Jun ^a   Shimomura, Hideki ^a   Tsujita, Kenichi ^a   Fukuda, Masaya ^a   Yamashita, Takuro ^a   Nakamura, Yoshinori ^a   Sugiyama, Seigo ^a   Ogawa, Hisao ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

Author keywords

Cardiomyopathy; Genetics; Haemochromatosis; Hemojuvelin; Iron homeostasis

Indexed keywords

FERRITIN; IRON; TRANSFERRIN;

ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; EXON; FEMALE; FERRITIN BLOOD LEVEL; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; HEMOCHROMATOSIS; HEMOJUVELIN GENE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JAPANESE; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; Q312X GENE; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANTIMICROBIAL CATIONIC PEPTIDES; CARDIOMYOPATHIES; CHILD; CODON, NONSENSE; FEMALE; HEMOCHROMATOSIS; HUMANS; JAPAN; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RISK FACTORS; YOUNG ADULT;

EID: 53249121479     PISSN: 13889842     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejheart.2008.07.012     Document Type: Article

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