Copy number variation in familial Parkinson disease.

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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Autores principales: Nathan Pankratz, Alexandra Dumitriu, Kurt N Hetrick, Mei Sun, Jeanne C Latourelle, Jemma B Wilk, Cheryl Halter, Kimberly F Doheny, James F Gusella, William C Nichols, Richard H Myers, Tatiana Foroud, Anita L DeStefano, PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2011
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/35b500ab30934e039c31e84cc71c44a4
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