Loading...
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and transport of GPI-anchored proteins (GPI-APs). To date, mutations in 13 of these genes are known to cause inherited GPI deficiencies (IGDs),...
Saved in:
| Published in: | Am J Hum Genet |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Elsevier
2016
|
| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4833197/ https://ncbi.nlm.nih.gov/pubmed/26996948 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.02.007 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|