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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Veröffentlicht in:Orphanet J Rare Dis
Hauptverfasser: Carmody, Leigh C., Blau, Hannah, Danis, Daniel, Zhang, Xingman A., Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D., Robinson, Peter N.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2020
Schlagworte:
Research
Online Zugang: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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