Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

Neuromuscular diseases (NMD) account for a significant proportion of infant and childhood mortality and devastating chronic disease. Determining the specific diagnosis of NMD is challenging due to thousands of unique or rare genetic variants that result in overlapping phenotypes. We present four uni...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Hunter, Jesse M, Ahearn, Mary Ellen, Balak, Christopher D, Liang, Winnie S, Kurdoglu, Ahmet, Corneveaux, Jason J, Russell, Megan, Huentelman, Matthew J, Craig, David W, Carpten, John, Coons, Stephen W, DeMello, Daphne E, Hall, Judith G, Bernes, Saunder M, Baumbach-Reardon, Lisa
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Ltd 2015
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521965/
https://ncbi.nlm.nih.gov/pubmed/26247046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.142
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