Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)

PMM2-CDG, formerly known as congenital disorder of glycosylation-Ia (CDG-Ia), is caused by mutations in the gene encoding phosphomannomutase 2 (PMM2). This disease is the most frequent form of inherited CDG-diseases affecting protein N-glycosylation in human. PMM2-CDG is a multisystemic disease with...

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Detalhes bibliográficos
Publicado no:Mol Cell Proteomics
Main Authors: Thiesler, Christina T., Cajic, Samanta, Hoffmann, Dirk, Thiel, Christian, van Diepen, Laura, Hennig, René, Sgodda, Malte, Weiβmann, Robert, Reichl, Udo, Steinemann, Doris, Diekmann, Ulf, Huber, Nicolas M. B., Oberbeck, Astrid, Cantz, Tobias, Kuss, Andreas W., Körner, Christian, Schambach, Axel, Rapp, Erdmann, Buettner, Falk F. R.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society for Biochemistry and Molecular Biology 2016
Assuntos:
Technological Innovation and Resources
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4824866/
https://ncbi.nlm.nih.gov/pubmed/26785728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/mcp.M115.054122
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