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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| Auteurs principaux: | , , , , , , |
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| Format: | article |
| Langue: | EN |
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Public Library of Science (PLoS)
2011
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| Accès en ligne: | https://doaj.org/article/1883982f42954caaa8f20dbb64ebef6b |
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