| Genetic Variants in the RAB7L1 and SLC41A1 Genes of the PARK16 Locus in Chinese Parkinson's Disease Patients. | |
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MedLine Citation:
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PMID: 21812739 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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ABSTRACT We performed direct DNA sequencing of the RAB7L1 and SLC41A1 genes within the PARK16 locus in 205 Chinese Parkinson's disease (PD) patients. Three novel heterozygous variants were identified in SLC41A1: c.436A > G (causing p.Lys146Glu), c.1440A > G (causing p.Pro480Pro), and c.552 + 50G > A. These three variants were not present in any of the 210 genetically unrelated healthy controls of the same ethnic origin. No changes were identified in the RAB7L1 gene. Additionally, for the eight core PARK16 SNPs, no significant difference in allele or genotype frequencies was observed between PD patients and controls. Further analysis is required to determine the role of genes within the PARK16 locus in development of PD. |
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Authors:
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Yaping Yan; Jun Tian; Xiaoyun Mo; Guohua Zhao; Xinzhen Yin; Jiali Pu; Baorong Zhang |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-8-4 |
Journal Detail:
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Title: The International journal of neuroscience Volume: - ISSN: 1563-5279 ISO Abbreviation: - Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-8-4 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0270707 Medline TA: Int J Neurosci Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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1Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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