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...

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Detalles Bibliográficos
Autores principales: Orelio, Claudia, van der Sluis, Renée M., Verkuijlen, Paul, Nethe, Micha, Hordijk, Peter L., van den Berg, Timo K., Kuijpers, Taco W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113850/
https://www.ncbi.nlm.nih.gov/pubmed/21695142
http://dx.doi.org/10.1371/journal.pone.0020727

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