期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 73, 期 2, 页码 397-403出版社
UNIV CHICAGO PRESS
DOI: 10.1086/377158
关键词
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资金
- NINDS NIH HHS [R01NS37912, 1PO1NS31248-02] Funding Source: Medline
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, adult-onset motor neuron disease that arises as a dominantly inherited trait in similar to10% of ALS cases. Mutations in one gene, cytosolic Cu/Zn superoxide dismutase (SOD1), account for similar to25% of familial ALS (FALS) cases. We have performed a genetic linkage screen in 16 pedigrees with FALS with no evidence for mutations in the SOD1 gene and have identified novel ALS loci on chromosomes 16 and 20. The analysis of these genes will delineate pathways implicated as determinants of motor-neuron viability and provide insights into possible therapies for ALS.
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