Identification of a de novo DYNC1H1 mutation via WES according to published guidelines

De novo mutations that contribute to rare Mendelian diseases, including neurological disorders, have been recently identified. Whole-exome sequencing (WES) has become a powerful tool for the identification of inherited and de novo mutations in Mendelian diseases. Two important guidelines were recent...

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Detalles Bibliográficos
Autores principales: Ding, Dongxue, Chen, Zhao, Li, Kai, Long, Zhe, Ye, Wei, Tang, Zhaoli, Xia, Kun, Qiu, Rong, Tang, Beisha, Jiang, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4742772/
https://www.ncbi.nlm.nih.gov/pubmed/26846447
http://dx.doi.org/10.1038/srep20423

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4742772/
https://www.ncbi.nlm.nih.gov/pubmed/26846447
http://dx.doi.org/10.1038/srep20423

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