Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant

Changes at the invariable donor splice site + 1 guanine, relatively frequent in human genetic disease, are predicted to abrogate correct splicing, and thus are classified as null mutations. However, their ability to direct residual expression, which might have pathophysiological implications in seve...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Cavallari, Nicola, Balestra, Dario, Branchini, Alessio, Maestri, Iva, Chuamsunrit, Ampaiwan, Sasanakul, Werasak, Mariani, Guglielmo, Pagani, Franco, Bernardi, Francesco, Pinotti, Mirko
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier Pub. Co 2012
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3787739/
https://ncbi.nlm.nih.gov/pubmed/22426302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2012.03.001
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados