SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Neurogenetics

Volumn 15, Issue 1, 2014, Pages 23-30

  Baker, Matt ^a   Strongosky, Audrey J ^b   Sanchez Contreras, Monica Y ^a   Yang, Shan ^c   Ferguson, Will ^c   Calne, Donald B ^d   Calne, Susan ^d   Stoessl, A Jon ^d   Allanson, Judith E ^e   Broderick, Daniel F ^b   Hutton, Michael L ^a,f   Dickson, Dennis W ^a   Ross, Owen A ^a   Wszolek, Zbigniew K ^b   Rademakers, Rosa ^a  

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

^c Complete Genomics ^*  (United States)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^f ELI LILLY AND COMPANY   (United States)

Author keywords

Basal ganglia calcification; Dystonia; Genomic deletion; Mutation; SLC20A2; THAP1

Indexed keywords

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COPY NUMBER VARIATION; DYSTONIA; EXON; FAHR DISEASE; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLC20A2 GENE; THAP1 GENE; VERY ELDERLY;

AGED; AGED, 80 AND OVER; APOPTOSIS REGULATORY PROTEINS; BASAL GANGLIA; BRAIN DISEASES; CALCINOSIS; CANADA; CHROMOSOME DELETION; CODON, NONSENSE; DNA-BINDING PROTEINS; DYSTONIA; EXOME; FAMILY HEALTH; FEMALE; GENE DELETION; GENOME; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PEDIGREE; SEQUENCE ANALYSIS, DNA; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE III;

EID: 84897401852     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0378-5     Document Type: Article

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