Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice

Spinal muscular atrophy is caused by reduced levels of SMN resulting from the loss of SMN1 and reliance on SMN2 for the production of SMN. Loss of SMN entirely is embryonic lethal in mammals. There are several SMN missense mutations found in humans. These alleles do not show partial function in the...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: McGovern, Vicki L, Kray, Kaitlyn M, Arnold, W David, Duque, Sandra I, Iyer, Chitra C, Massoni-Laporte, Aurélie, Workman, Eileen, Patel, Aalapi, Battle, Daniel J, Burghes, Arthur H M
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7788290/
https://ncbi.nlm.nih.gov/pubmed/33084884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa235
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados