Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease
Joint Authors
Deng, Xiong
Deng, Hao
Song, Chengyuan
Liu, Yiming
Fan, Kuan
Hu, Pengzhi
Wen, Jie
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-12-23
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Genetic factors are thought to play an important role in the pathogenesis of Parkinson’s disease (PD), particularly early-onset PD.
The PRKN gene is the primary disease-causing gene for early-onset PD.
The details of its functions remain unclear.
This study identified novel compound heterozygous variants (p.T240K and p.L272R) of the PRKN gene in a Han-Chinese family with early-onset PD.
This finding is helpful in the genetic diagnosis of PD and also the functional research of the PRKN gene.
American Psychological Association (APA)
Fan, Kuan& Hu, Pengzhi& Song, Chengyuan& Deng, Xiong& Wen, Jie& Liu, Yiming…[et al.]. 2019. Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease. Parkinson’s Disease،Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1207030
Modern Language Association (MLA)
Fan, Kuan…[et al.]. Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease. Parkinson’s Disease No. 2019 (2019), pp.1-6.
https://search.emarefa.net/detail/BIM-1207030
American Medical Association (AMA)
Fan, Kuan& Hu, Pengzhi& Song, Chengyuan& Deng, Xiong& Wen, Jie& Liu, Yiming…[et al.]. Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease. Parkinson’s Disease. 2019. Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1207030
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1207030