期刊
NEUROBIOLOGY OF AGING
卷 32, 期 3, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2009.12.020
关键词
Amyotrophic lateral sclerosis; Sporadic disease; FUS; Italy; United States of America
资金
- NIH, National Institute on Aging [Z01-AG000949-02]
- Ministero della Salute, Ricerca Sanitaria Finalizzata
- Fon-dazione Vialli e Mauro for ALS, Torino
- Regione Piemonte, Progetti Finalizzati
Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease. Published by Elsevier Inc.
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