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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

BACKGROUND: Defects in the glycosylphosphatidylinositol (GPI) biosynthesis pathway can result in a group of congenital disorders of glycosylation known as the inherited GPI deficiencies (IGDs). To date, defects in 22 of the 29 genes in the GPI biosynthesis pathway have been identified in IGDs. The e...

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הוצא לאור ב:	Orphanet J Rare Dis
Main Authors:	Carmody, Leigh C., Blau, Hannah, Danis, Daniel, Zhang, Xingman A., Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D., Robinson, Peter N.
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	BioMed Central 2020
נושאים:	Research
גישה מקוונת:	https://ncbi.nlm.nih.gov/pmc/articles/PMC7001271/ https://ncbi.nlm.nih.gov/pubmed/32019583 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-1313-0
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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

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