A carregar...

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

The short rib polydactyly syndromes (SRPS) are a heterogeneous group of autosomal recessive, perinatal-lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs, and poly-dactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but they d...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: Taylor, S. Paige, Dantas, Tiago J., Duran, Ivan, Wu, Sulin, Lachman, Ralph S., Nelson, Stanley F., Cohn, Daniel H., Vallee, Richard B., Krakow, Deborah
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4470332/
https://ncbi.nlm.nih.gov/pubmed/26077881
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms8092
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!