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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha: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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