De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia

Human Molecular Genetics

Volumn 7, Issue 7, 1998, Pages 1133-1136

  Klein, Christine ^g   Brin, Mitchell F ^a   De Leon, Deborah ^b   Limborska, Svetlana A ^c   Ivanova Smolenskaya, Irina A ^d   Bressman, Susan B ^b   Friedman, Andrzej ^e   Markova, Elena D ^d   Risch, Neil J ^f   Breakefield, Xandra O ^g   Ozelius, Laurie J ^g  

^a MOUNT SINAI HOSPITAL   (United States)

^b New York Presbyterian Hospital Columbia University Medical Center   (United States)

^c INSTITUTE OF MOLECULAR GENETICS   (Russian Federation)

^d RESEARCH CENTER OF NEUROLOGY   (Russian Federation)

^e MEDICAL UNIVERSITY OF WARSAW   (Poland)

^f STANFORD UNIVERSITY   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; ETHNIC GROUP; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; MUTATION RATE; PRIORITY JOURNAL; TANDEM REPEAT; TORSION DYSTONIA;

ADULT; BASE SEQUENCE; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; DYSTONIA MUSCULORUM DEFORMANS; ETHNIC GROUPS; FEMALE; HUMANS; JEWS; MALE; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PENNSYLVANIA; RUSSIA; SEQUENCE DELETION; SWITZERLAND;

EID: 7144256520     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.7.1133     Document Type: Article

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