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Title: Screening for TMEM230 mutations in young-onset Parkinson's disease
Authors: Ma D. 
Foo J.N.
Yulin Ng E.
Zhao Y.
Liu J.-J. 
Tan E.K. 
Keywords: Mutation screening
Parkinson's disease
Whole exome sequencing
Issue Date: 2017
Publisher: Elsevier Inc.
Citation: Ma D., Foo J.N., Yulin Ng E., Zhao Y., Liu J.-J., Tan E.K. (2017). Screening for TMEM230 mutations in young-onset Parkinson's disease. Neurobiology of Aging 58 : 239.e9-239.e10. ScholarBank@NUS Repository.
Abstract: TMEM230 gene mutations have been reported to be linked with Parkinson's disease (PD) recently. To investigate the prevalence of this gene in southeastern Chinese patients with PD, whole exome sequencing was performed in young-onset and familial PD patients and healthy controls in our Asian population. One heterozygous missense p.Phe121Ser mutation was detected in a healthy 76-year-old control subject and no other TMEM230 mutations were found in PD patients and controls. These data suggest that TMEM230 mutation might be a rare cause of Chinese familial and sporadic PD patients and a larger sample size will be needed to evaluate the association of TMEM230 polymorphic variants with PD. � 2017 Elsevier Inc.
Source Title: Neurobiology of Aging
ISSN: 1974580
DOI: 10.1016/j.neurobiolaging.2017.06.011
Appears in Collections:Staff Publications

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