Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: A novel ATP7B mutation in an adult patient

Netherlands Journal of Medicine

Volumn 66, Issue 8, 2008, Pages 348-350

  Kok, K F ^a   Hoevenaars, B ^a   Waanders, E ^a   Drenth, J P H ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Copper; Hepatitis; Mutation analysis; Wilson's disease

Indexed keywords

ADENOSINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CERULOPLASMIN; COPPER; CYTOSINE; LIVER ENZYME; THYMINE; WILSON DISEASE PROTEIN; ZINC SULFATE;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ANAMNESIS; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CERULOPLASMIN BLOOD LEVEL; CHELATION THERAPY; CLINICAL FEATURE; COPPER METABOLISM; DRUG RESPONSE; ENZYME BLOOD LEVEL; FATTY LIVER; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HEPATITIS; HETEROZYGOSITY; HUMAN; LIVER BIOPSY; LIVER DISEASE; LIVER FIBROSIS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; SCORING SYSTEM; SEQUENCE ANALYSIS; TISSUE LEVEL; URINE LEVEL; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADULT; CATION TRANSPORT PROTEINS; COPPER; FEMALE; HEPATOLENTICULAR DEGENERATION; HUMANS; MOLECULAR BIOLOGY; MUTATION;

EID: 54349121574     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

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