Loading...

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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Hum Mol Genet
Main Authors: Wu, Xingxing, Wang, Shu-Huei, Sun, Junjie, Krainer, Adrian R, Hua, Yimin, Prior, Thomas W
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2017
Fag:
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!