Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

Nuclear import receptors of the KPNA family recognize the nuclear localization signal in proteins and together with importin-β mediate translocation into the nucleus. Accordingly, KPNA family members have a highly conserved architecture with domains that contact the nuclear localization signal and b...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Paciorkowski, Alex R, Weisenberg, Judy, Kelley, Joshua B, Spencer, Adam, Tuttle, Emily, Ghoneim, Dalia, Thio, Liu Lin, Christian, Susan L, Dobyns, William B, Paschal, Bryce M
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3992559/
https://ncbi.nlm.nih.gov/pubmed/24045845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.196
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados