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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),...
Uloženo v:
| Vydáno v: | Am J Hum Genet |
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| Hlavní autoři: | , , , , , , , , , , , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2016
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| Témata: | |
| On-line přístup: | 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 |
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