Clinical molecular diagnosis of Wilson disease

Seminars in Liver Disease

Volumn 31, Issue 3, 2011, Pages 233-238

  Bennett, James ^a   Hahn, Si Houn ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

genetic testing; molecular diagnosis; mutation spectrum; sensitivity; Wilson disease

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA2 PROTEIN; CERULOPLASMIN; COPPER; WILSON DISEASE PROTEIN;

EXON; GENE MUTATION; GENE SEQUENCE; INTRON; LIVER BIOPSY; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TISSUE LEVEL; URINALYSIS; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; CERULOPLASMIN; COPPER; GENETIC TESTING; HEPATOLENTICULAR DEGENERATION; HUMANS; MUTATION; SENSITIVITY AND SPECIFICITY;

EID: 80052679496     PISSN: 02728087     EISSN: 10988971     Source Type: Journal    
DOI: 10.1055/s-0031-1286054     Document Type: Review

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