Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

Human Mutation

Volumn 26, Issue 2, 2005, Pages 84-93

  Møller, Lisbeth Birk ^a   Bukrinsky, Jens Thostrup ^b,c,d   Mølgaard, Anne ^b,e   Paulsen, Marianne ^a   Lund, Connie ^a   Tümer, Zeynep ^b   Larsen, Sine ^b   Hörn, Nina ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c CARLSBERG LABORATORY   (Denmark)

^d NOVO NORDISK A S   (Denmark)

^e TECHNICAL UNIVERSITY OF DENMARK   (Denmark)

Author keywords

ATP7A; Copper transport; Localization; Missense mutations; P type ATPases; Stability; Structure

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE (CALCIUM); CALCIUM ION; MENKES PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; ATP7A GENE; CONTROLLED STUDY; CRYSTAL STRUCTURE; FIBROBLAST; GENE IDENTIFICATION; GENE MAPPING; GENE STRUCTURE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; MENKES SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN LOCALIZATION; PROTEIN STABILITY; SARCOPLASMIC RETICULUM; SEQUENCE HOMOLOGY; WILD TYPE;

ADENOSINE TRIPHOSPHATASES; AMINO ACID SEQUENCE; CALCIUM-TRANSPORTING ATPASES; CATION TRANSPORT PROTEINS; CHROMOSOME MAPPING; CONSERVED SEQUENCE; CRYSTALLOGRAPHY, X-RAY; FIBROBLASTS; HUMANS; MENKES KINKY HAIR SYNDROME; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 22844450972     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20190     Document Type: Article

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