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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Detalles Bibliográficos
Autores principales: Carmody, Leigh C., Blau, Hannah, Danis, Daniel, Zhang, Xingman A., Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D., Robinson, Peter N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001271/
https://www.ncbi.nlm.nih.gov/pubmed/32019583
http://dx.doi.org/10.1186/s13023-020-1313-0

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