New mutations in the Wilson disease gene, ATP7B: Implications for molecular testing

Genetic Testing

Volumn 12, Issue 1, 2008, Pages 139-145

  Davies, Lisa Prat ^a   Macintyre, Georgina ^a   Cox, Diane W ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CERULOPLASMIN; COPPER; WILSON DISEASE PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; DEMOGRAPHY; DNA EXTRACTION; DNA SEQUENCE; GENE DELETION; GENE MUTATION; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; WILSON DISEASE;

5' UNTRANSLATED REGIONS; ADENOSINE TRIPHOSPHATASES; AMINO ACID SUBSTITUTION; CATION TRANSPORT PROTEINS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; INTRONS; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE DELETION; VARIATION (GENETICS);

MERLANGIUS MERLANGUS;

EID: 41449091131     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0072     Document Type: Article

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