A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2

The most common congenital disorder of glycosylation (CDG), phosphomannomutase 2 (PMM2)-CDG, is caused by mutations in PMM2 that limit availability of mannose precursors required for protein N-glycosylation. The disorder has no therapy and there are no models to test new treatments. We generated com...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Chan, Barden, Clasquin, Michelle, Smolen, Gromoslaw A., Histen, Gavin, Powe, Josh, Chen, Yue, Lin, Zhizhong, Lu, Chenming, Liu, Yan, Cang, Yong, Yan, Zhonghua, Xia, Yuanfeng, Thompson, Ryan, Singleton, Chris, Dorsch, Marion, Silverman, Lee, Su, Shin-San Michael, Freeze, Hudson H., Jin, Shengfang
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2016
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5081049/
https://ncbi.nlm.nih.gov/pubmed/27053713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw085
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