Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk

BACKGROUND: Parkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple variants associated with sporadic PD were discovered via association studies. METHODS: We studied the...

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Detalles Bibliográficos
Autores principales: Bobbili, Dheeraj Reddy, Banda, Peter, Krüger, Rejko, May, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476273/
https://www.ncbi.nlm.nih.gov/pubmed/32054687
http://dx.doi.org/10.1136/jmedgenet-2019-106316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476273/
https://www.ncbi.nlm.nih.gov/pubmed/32054687
http://dx.doi.org/10.1136/jmedgenet-2019-106316

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