Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson’s disease

BACKGROUND: Variants in GBA are the most common genetic risk factor for Parkinson’s disease (PD), and are especially prevalent in the Ashkenazi Jewish (AJ) population. However, most studies on GBA in AJ genotype only seven selected Gaucher-associated pathogenic variants rather than sequencing the wh...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Eur J Med Genet
Main Authors: Ruskey, Jennifer A., Greenbaum, Lior, Roncière, Léanne, Alam, Armaghan, Spiegelman, Dan, Liong, Christopher, Levy, Oren A., Waters, Cheryl, Fahn, Stanley, Marder, Karen S., Chung, Wendy, Yahalom, Gilad, Israeli-Korn, Simon, Livneh, Vered, Fay-Karmon, Tsvia, Alcalay, Roy N., Hassin-Baer, Sharon, Gan-Or, Ziv
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6261782/
https://ncbi.nlm.nih.gov/pubmed/29842932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2018.05.005
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados