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...

詳細記述

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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2014
主題:
Research Article
オンライン･アクセス: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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