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...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii‐Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann‐Charlotte, Feuk, Lars
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180480/
https://www.ncbi.nlm.nih.gov/pubmed/28581210
http://dx.doi.org/10.1002/humu.23268

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180480/
https://www.ncbi.nlm.nih.gov/pubmed/28581210
http://dx.doi.org/10.1002/humu.23268

Ejemplares similares