Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

Many eukaryotic cell-surface proteins are anchored to the membrane via glycosylphosphatidylinositol (GPI). There are at least 26 genes involved in biosynthesis and remodeling of GPI anchors. Hypomorphic coding mutations in seven of these genes have been reported to cause decreased expression of GPI...

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Bibliographic Details
Main Authors:	Murakami, Yoshiko, Tawamie, Hasan, Maeda, Yusuke, Büttner, Christian, Buchert, Rebecca, Radwan, Farah, Schaffer, Stefanie, Sticht, Heinrich, Aigner, Michael, Reis, André, Kinoshita, Taroh, Jamra, Rami Abou
Format:	Artigo
Language:	Inglês
Published:	Public Library of Science 2014
Subjects:	Research Article
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC4006728/ https://ncbi.nlm.nih.gov/pubmed/24784135 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1004320
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Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

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