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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149037/
https://www.ncbi.nlm.nih.gov/pubmed/21829596
http://dx.doi.org/10.1371/journal.pone.0020988

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149037/
https://www.ncbi.nlm.nih.gov/pubmed/21829596
http://dx.doi.org/10.1371/journal.pone.0020988

Ejemplares similares