Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.

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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Bibliographic Details
Main Authors: Claudia Orelio, Renée M van der Sluis, Paul Verkuijlen, Micha Nethe, Peter L Hordijk, Timo K van den Berg, Taco W Kuijpers
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21695142/pdf/?tool=EBI

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