Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B

Human Mutation

Volumn 31, Issue 5, 2010, Pages 569-577

  Luoma, Leiah M ^a   Deeb, Taha M M ^a   Macintyre, Georgina ^a   Cox, Diane W ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

ATP loop; ATP7B; Prediction programs for variant analysis; Wilson disease; Yeast functional assays

Indexed keywords

ADENOSINE TRIPHOSPHATE; WILSON DISEASE PROTEIN;

ARTICLE; GENE EXPRESSION; GENE FUNCTION; GENE LOCATION; GENE NUMBER; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; MISSENSE MUTATION; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; STRUCTURE ANALYSIS; YEAST;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; COMPUTATIONAL BIOLOGY; COPPER; DNA MUTATIONAL ANALYSIS; GENETIC VARIATION; HEPATOLENTICULAR DEGENERATION; HUMANS; MUTATION, MISSENSE; PHENOTYPE;

EID: 77951777893     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21228     Document Type: Article

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