期刊
NEUROBIOLOGY OF AGING
卷 38, 期 -, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2015.11.023
关键词
Amyotrophic lateral sclerosis; MATR3 gene; Novel mutation; Chinese population
资金
- National Natural Sciences Foundation of China [81030019]
Several recent studies have reported that the MATR3 gene is associated with the risk of amyotrophic lateral sclerosis (ALS). We sequenced the MATR3 gene in 509 unrelated Chinese sporadic ALS patients and 560 control subjects. We identified a novel missense mutation p.Ser610Phe in one patient. We also detected 3 missense variants (p.Ala313Gly, p.Arg147Lys, and p.Gln347Lys) in 3 of the 560 healthy controls. Our results suggest that MATR3 may not be a common genetic factor in Chinese ALS patients. (C) 2016 Elsevier Inc. All rights reserved.
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