Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3)

Neurogenetics

Volumn 11, Issue 2, 2010, Pages 193-202

  Bettencourt, Conceição ^a,b   Santos, Cristina ^a,c   Montiel, Rafael ^d   Do Carmo Costa, Maria ^e,f   Cruz Morales, Pablo ^d   Santos, Liliana Ribeiro ^a   Simões, Nelson ^a   Kay, Teresa ^g   Vasconcelos, João ^h   Maciel, Patrícia ^e   Lima, Manuela ^a,b  

^a UNIVERSITY OF THE AZORES   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d DEPARTAMENTO DE FÍSICA   (Mexico)

^e UNIVERSITY OF MINHO   (Portugal)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^g HOSPITAL DONA ESTEFÂNIA   (Portugal)

^h HOSPITAL DO DIVINO ESPÍRITO SANTO   (Portugal)

Author keywords

Alternative splicing; Ataxin 3; MJD; PolyQ disorders; SCA3; Transcript variants

Indexed keywords

ATAXIN 3; COMPLEMENTARY DNA; RNA;

ALTERNATIVE RNA SPLICING; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLONING; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE DISRUPTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; MACHADO JOSEPH DISEASE; PATHOGENESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; STOP CODON; STRUCTURE ANALYSIS;

ALTERNATIVE SPLICING; BASE SEQUENCE; HUMANS; MACHADO-JOSEPH DISEASE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PROTEIN CONFORMATION; REPRESSOR PROTEINS;

EID: 77954656232     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-009-0216-y     Document Type: Article

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