Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene

Journal of Trace Elements in Medicine and Biology

Volumn 21, Issue 1, 2007, Pages 37-42

  Chappuis, Philippe ^a   Callebert, Jacques ^a   Quignon, Valérie ^a   Woimant, France ^a   Laplanche, Jean Louis ^a  

^a HÔPITAL LARIBOISIÈRE   (France)

Author keywords

ATP7B gene; Neurology; Wilson disease

Indexed keywords

COPPER; WILSON DISEASE PROTEIN;

ARTICLE; ATP7B GENE; BILIARY EXCRETION; CLINICAL ARTICLE; COPPER METABOLISM; EXON; FRANCE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC DISORDER; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INTRON; LIVER DISEASE; MISSENSE MUTATION; NEUROLOGIC DISEASE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TISSUE DISTRIBUTION; WILSON DISEASE;

EID: 33847137369     PISSN: 0946672X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jtemb.2006.11.002     Document Type: Article

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