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Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II

10 Apr 2013

Abstract excerpt

TMEM165 has recently been identified as a novel protein involved in CDG-II. TMEM165 has no biological function described so far. Different mutations were recently found in patients with Golgi glycosylation defects and harboring a peculiar skeletal phenotype. In this study, we examined the effect of naturally occurring mutations on the intracellular localization of TMEM165 and their abilities to complement the...

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PMID: 23575229
DOI: 10.1093/hmg/ddt146

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