Copy Number Variation in Familial Parkinson Disease

Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single missense mutation) may increase risk for PD. We rece...

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書誌詳細
主要な著者: Pankratz, Nathan, Dumitriu, Alexandra, Hetrick, Kurt N., Sun, Mei, Latourelle, Jeanne C., Wilk, Jemma B., Halter, Cheryl, Doheny, Kimberly F., Gusella, James F., Nichols, William C., Myers, Richard H., Foroud, Tatiana, DeStefano, Anita L.
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2011
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3149037/
https://ncbi.nlm.nih.gov/pubmed/21829596
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0020988
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