Altered Intracellular Localization and Mobility of SBDS Protein upon Mutation in Shwachman-Diamond Syndrome

Shwachman-Diamond Syndrome (SDS) is a rare inherited disease caused by mutations in the SBDS gene. Hematopoietic defects, exocrine pancreas dysfunction and short stature are the most prominent clinical features. To gain understanding of the molecular properties of the ubiquitously expressed SBDS pro...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Orelio, Claudia, van der Sluis, Renée M., Verkuijlen, Paul, Nethe, Micha, Hordijk, Peter L., van den Berg, Timo K., Kuijpers, Taco W.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3113850/
https://ncbi.nlm.nih.gov/pubmed/21695142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0020727
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados