Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function

Glycosylphosphatidylinositol (GPI) is a glycolipid that tethers more than 150 different proteins to the cell surface. Aberrations in biosynthesis of GPI anchors cause congenital disorders of glycosylation with clinical features including intellectual disability (ID), seizures, and facial dysmorphism...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii‐Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann‐Charlotte, Feuk, Lars
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6180480/
https://ncbi.nlm.nih.gov/pubmed/28581210
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23268
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