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Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score
Movement Disorders ( IF 7.4 ) Pub Date : 2020-01-20 , DOI: 10.1002/mds.27974
Hirotaka Iwaki 1, 2 , Cornelis Blauwendraat 1 , Mary B Makarious 1 , Sara Bandrés-Ciga 1 , Hampton L Leonard 1 , J Raphael Gibbs 1 , Dena G Hernandez 1 , Sonja W Scholz 1 , Faraz Faghri 1 , , Mike A Nalls 1, 2 , Andrew B Singleton 1
Affiliation  

Although the leucine‐rich repeat kinase 2 p.G2019S mutation has been demonstrated to be a strong risk factor for PD, factors that contribute to penetrance among carriers, other than aging, have not been well identified.

中文翻译:

LRRK2 p.G2019S 携带者中帕金森病的外显率受多基因风险评分的影响

尽管富含亮氨酸的重复激酶 2 p.G2019S 突变已被证明是 PD 的强风险因素,但除衰老外,导致携带者外显率的因素尚未得到很好的确定。
更新日期:2020-01-20
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