The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole exome sequencing. Fifty-five families affected by LGMD were recruited using an institutionally-approved protocol. Exome sequencing was performed on probands and selected parental sample...

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Detalles Bibliográficos
Autores principales: Reddy, Hemakumar M., Cho, Kyung-Ah, Lek, Monkol, Estrella, Elicia, Valkanas, Elise, Jones, Michael D., Mitsuhashi, Satomi, Darras, Basil T., Amato, Anthony A., Lidov, Hart G.W., Brownstein, Catherine A., Margulies, David M., Yu, Timothy W., Salih, Mustafa A., Kunkel, Louis M., MacArthur, Daniel G., Kang, Peter B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266644/
https://www.ncbi.nlm.nih.gov/pubmed/27708273
http://dx.doi.org/10.1038/jhg.2016.116

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