DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene

Human Mutation

Volumn 32, Issue 11, 2011, Pages 1213-1224

  Blanchard, Arnaud ^a,b   Ea, Vuthy ^a,b   Roubertie, Agathe ^a,b,c   Martin, Mélanie ^a,b   Coquart, Coline ^d   Claustres, Mireille ^a,b,d   Béroud, Christophe ^a,b,d   Collod Béroud, Gwenaëlle ^a,b  

^a INSERM   (France)

^b UNIV MONTPELLIER   (France)

^c GUI DE CHAULIAC HOSPITAL   (France)

^d HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

Dystonia; DYT6; THAP1, database; UMD

Indexed keywords

AMISH; ARTICLE; DYSTONIA; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC DATABASE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INDEL MUTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SYSTEMATIC REVIEW; THAP1 GENE; TRANSCRIPTION REGULATION;

ADOLESCENT; ADULT; APOPTOSIS REGULATORY PROTEINS; CHILD; CHILD, PRESCHOOL; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; DYSTONIA MUSCULORUM DEFORMANS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; YOUNG ADULT;

EID: 80054715409     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21564     Document Type: Article

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