Article
[Inherited GPI deficiencies:a new disease with intellectual disability and epilepsy].
No to hattatsu = Brain and development - 1 Jan 2015
Murakami Yoshiko, Kinoshita Taroh
Abstract excerpt
Glycosylphosphatidylinositol (GPI) is a glycolipid, which anchors 150 or more types of proteins to the cell surface. There are at least 26 genes involved in the biosynthesis and transport of GPI-anchored proteins (GPI-APs). Many inherited GPI deficiencies (IGDs) have been recently found using whole-exome sequencing. Patients with IGD have only a partial deficiency because complete GPI deficiency causes embryonic...
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