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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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Publicat a:Sci Rep
Autors principals: Steinberg, Karyn Meltz, Yu, Bing, Koboldt, Daniel C., Mardis, Elaine R., Pamphlett, Roger
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4360641/
https://ncbi.nlm.nih.gov/pubmed/25773295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep09124
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