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

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

Abstract 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 IGD...

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Bibliographic Details
Main Authors: Leigh C. Carmody, Hannah Blau, Daniel Danis, Xingman A. Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D. Thompson, Peter N. Robinson
Format: Article
Language:English
Published: BMC 2020-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
GPI-anchor
Glycosylphosphatidylinositols
Congenital disorders of glycosylation
Human phenotype ontology
Online Access:https://doi.org/10.1186/s13023-020-1313-0

Internet

https://doi.org/10.1186/s13023-020-1313-0

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