Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability

European Journal of Human Genetics

Volumn 21, Issue 11, 2013, Pages 1272-1276

  McFarland, Karen N ^a   Liu, Jilin ^a   Landrian, Ivette ^a   Gao, Rui ^b   Sarkar, Partha S ^b   Raskin, Salmo ^c   Moscovich, Mariana ^a,d   Gatto, Emilia M ^e,f   Teive, Hélio A G ^d   Ochoa, Adriana ^g   Rasmussen, Astrid ^h   Ashizawa, Tetsuo ^a  

^a UNIVERSITY OF FLORIDA   (United States)

^b University of Texas Medical Branch School of Medicine   (United States)

^c PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

^d FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^e Sanatorio de la Trinidad   (Argentina)

^f Instituto Neurociencias de Buenos Aires (INEBA)   (Argentina)

^g NATIONAL INSTITUTE OF NEUROLOGY AND NEUROSURGERY   (Mexico)

^h OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

Author keywords

anticipation; repeat instability; repeat interruptions

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAG REPEAT; CONTROLLED STUDY; DEGENERATIVE DISEASE; FEMALE; GENETIC SUSCEPTIBILITY; GENOMIC INSTABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE REPEAT; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; SPINOCEREBELLAR ATAXIA TYPE 10; SPINOCEREBELLAR DEGENERATION;

AGE OF ONSET; ANTICIPATION, GENETIC; DNA REPEAT EXPANSION; GENOMIC INSTABILITY; HUMANS; SPINOCEREBELLAR ATAXIAS;

EID: 84885901259     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.32     Document Type: Article

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