High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease

Scandinavian Journal of Gastroenterology

Volumn 45, Issue 10, 2010, Pages 1232-1237

  Okada, Toshihide ^a   Shiono, Yuta ^a   Kaneko, Yoshibumi ^a   Miwa, Kazuhiro ^a   Hasatani, Kenkei ^a   Hayashi, Yoshiaki ^a   Mibayashi, Hiroshi ^a   Aoyagi, Hiroyuki ^a   Tsuji, Shigetsugu ^a   Yoshimitsu, Masashi ^a   Hayashi, Hisao ^b   Yamagishi, Masakazu ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b AICHI GAKUIN UNIVERSITY   (Japan)

Author keywords

ATP7B; fulminant hepatic failure; genotype phenotype correlation; truncation; Wilson's disease

Indexed keywords

CERULOPLASMIN; COPPER; WILSON DISEASE PROTEIN;

ADOLESCENT; ARTICLE; CERULOPLASMIN BLOOD LEVEL; CHILD; CONTROLLED STUDY; COPPER BLOOD LEVEL; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INDEL MUTATION; LIVER FAILURE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ALLELES; BASE SEQUENCE; BIOLOGICAL MARKERS; CATION TRANSPORT PROTEINS; CHILD; CODON, NONSENSE; FEMALE; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; JAPAN; LIVER FAILURE, ACUTE; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PREVALENCE; SEQUENCE DELETION;

EID: 77956609394     PISSN: 00365521     EISSN: 15027708     Source Type: Journal    
DOI: 10.3109/00365521.2010.492527     Document Type: Article

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