Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

BACKGROUND: Congenital muscular dystrophy type 1A (MDC1A), also termed merosin‐deficient congenital muscular dystrophy (CMD), is a severe form of CMD caused by mutations in the laminin α2 gene (LAMA2). Of the more than 300 likely pathogenic variants found in the Leiden Open Variant Database, the maj...

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Detalles Bibliográficos
Autores principales: Cauley, Edmund S., Pittman, Alan, Mummidivarpu, Swati, Karimiani, Ehsan G., Martinez, Samantha, Moroni, Isabella, Boostani, Reza, Podini, Daniele, Mora, Marina, Jamshidi, Yalda, Hoffman, Eric P., Manzini, M. Chiara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667317/
https://www.ncbi.nlm.nih.gov/pubmed/32936536
http://dx.doi.org/10.1002/mgg3.1387

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