期刊
NEUROLOGY
卷 65, 期 5, 页码 741-744出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000172630.22804.73
关键词
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资金
- NINDS NIH HHS [K08-NS44138] Funding Source: Medline
Referral-based studies indicate that a mutation (G2019S) in exon 41 of the LRRK2 gene might be a common cause of Parkinson disease (PD). The authors sequenced leucine-rich repeat kinase 2 (LRRK2) exons 31, 35, and 41 in 371 consecutively recruited patients with PD and found mutations in six (1.6%) subjects, including two heterozygous for new putative pathogenic variants (R1441H, IVS31 + 3A -> G). These data confirm the important contribution of LRRK2 to PD susceptibility in a clinic-based population.
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