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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2011
Konular:
Research Article
Online Erişim: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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