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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Hum Mol Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2020
Onderwerpen:
General Article
Online toegang: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: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items