Mutations in ANO3 cause dominant craniocervical dystonia: Ion channel implicated in pathogenesis

American Journal of Human Genetics

Volumn 91, Issue 6, 2012, Pages 1041-1050

  Charlesworth, Gavin ^a   Plagnol, Vincent ^b   Holmström, Kira M ^a   Bras, Jose ^a   Sheerin, Una Marie ^a   Preza, Elisavet ^a   Rubio Agusti, Ignacio ^a,c   Ryten, Mina ^a   Schneider, Susanne A ^d   Stamelou, Maria ^a   Trabzuni, Daniah ^a,e   Abramov, Andrey Y ^a   Bhatia, Kailash P ^a   Wood, Nicholas W ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

^d UNIVERSITY OF KIEL   (Germany)

^e KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM GATED CHLORIDE CHANNEL; CALCIUM ION; CHLORIDE CHANNEL; UNCLASSIFIED DRUG;

ADULT; ANO 3 GENE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CALCIUM SIGNALING; CERVICAL DYSTONIA; CONTROLLED STUDY; EXOME; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; LINKAGE ANALYSIS; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; UNITED KINGDOM;

AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM SIGNALING; CHLORIDE CHANNELS; CORPUS STRIATUM; DYSTONIA; ENDOPLASMIC RETICULUM; EXOME; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; GENES, DOMINANT; GENETIC LINKAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; ION CHANNELS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; TORTICOLLIS;

EID: 84870889212     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.024     Document Type: Article

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