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A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by reduced expression of survival of motor neuron (SMN), a protein expressed in humans by two paralogous genes, SMN1 and SMN2. These genes are nearly identical, except for 10 single-nucleotide differences and a 5-nucleotide insertion in...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Wu, Xingxing, Wang, Shu-Huei, Sun, Junjie, Krainer, Adrian R, Hua, Yimin, Prior, Thomas W
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886194/
https://ncbi.nlm.nih.gov/pubmed/28460014
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx166
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