Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment

OBJECTIVE: To estimate the prevalence of TOR1A sequence variants associated with DYT1 dystonia. METHODS: We determined the frequency of the common trinucleotide deletion that causes DYT1 in the Genome Aggregation Database and the Penn Medicine Biobank, totaling exomes from over 135,000 individuals....

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Detalles Bibliográficos
Autores principales: Park, Joseph, Damrauer, Scott M., Baras, Aris, Reid, Jeffrey G., Overton, John D., Gonzalez-Alegre, Pedro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745720/
https://www.ncbi.nlm.nih.gov/pubmed/31583275
http://dx.doi.org/10.1212/NXG.0000000000000358

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745720/
https://www.ncbi.nlm.nih.gov/pubmed/31583275
http://dx.doi.org/10.1212/NXG.0000000000000358

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