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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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主要な著者: | , , , , , , , , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
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Public Library of Science
2011
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主題: | |
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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