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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081049/
https://www.ncbi.nlm.nih.gov/pubmed/27053713
http://dx.doi.org/10.1093/hmg/ddw085

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