Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes
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DOI: 10.1186/s13023-020-1313-0
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… read more here.
Keywords: gpi anchor; biosynthesis; gpi; transamidase remodeling ... See more keywords