Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

The contribution of genetic variants to sporadic amyotrophic lateral sclerosis (ALS) remains largely unknown. Either recessive or de novo variants could result in an apparently sporadic occurrence of ALS. In an attempt to find such variants we sequenced the exomes of 44 ALS-unaffected-parents trios....

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Detalles Bibliográficos
Autores principales: Steinberg, Karyn Meltz, Yu, Bing, Koboldt, Daniel C., Mardis, Elaine R., Pamphlett, Roger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360641/
https://www.ncbi.nlm.nih.gov/pubmed/25773295
http://dx.doi.org/10.1038/srep09124

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360641/
https://www.ncbi.nlm.nih.gov/pubmed/25773295
http://dx.doi.org/10.1038/srep09124

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