Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

Movement Disorders

Volumn 25, Issue 16, 2010, Pages 2854-2857

  De Carvalho Aguiar, Patricia ^a,b   Fuchs, Tania ^c   Borges, Vanderci ^a   Lamar, Kay Marie ^c   Silva, Sonia Maria Azevedo ^a   Ferraz, Henrique Ballalai ^a   Ozelius, Laurie ^c  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b HOSPITAL ISRAELITA ALBERT EINSTEIN   (Brazil)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

De novo mutation; Dystonia; DYT1; DYT6; THAP1; TOR1A

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAZIL; CHILD; CLINICAL ARTICLE; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; THAP 1 GENE; TOR 1 A GENE; TORSION DYSTONIA;

ADOLESCENT; ADULT; APOPTOSIS REGULATORY PROTEINS; BRAZIL; CHILD; DNA-BINDING PROTEINS; DYSTONIC DISORDERS; FEMALE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; NUCLEAR PROTEINS; PEDIGREE; SEQUENCE DELETION;

EID: 78650227185     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23133     Document Type: Article

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