LRRK2
队列
帕金森病
医学
疾病
突变
中枢神经系统疾病
退行性疾病
队列研究
内科学
儿科
遗传学
生物
基因
作者
Hon‐Chung Fung,Chiung‐Mei Chen,John Hardy,Dena Hernández,Andrew Singleton,Yih‐Ru Wu
摘要
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant and sporadic Parkinson's disease (PD). We report here the frequency of a common heterozygous mutation, 2877510G>A, which produces a glycine-to-serine amino acid substitution at codon 2019 in idiopathic Taiwanese PD. The extreme rarity of the G2019S mutation in our population suggests the occurrence of this mutation resulted from a common European founder.
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