Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

PGAP2 encodes a protein involved in remodeling the glycosylphosphatidylinositol (GPI) anchor in the Golgi apparatus. After synthesis in the endoplasmic reticulum (ER), GPI anchors are transferred to the proteins and are remodeled while transported through the Golgi to the cell membrane. Germline mut...

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Auteurs principaux: Hansen, Lars, Tawamie, Hasan, Murakami, Yoshiko, Mang, Yuan, ur Rehman, Shoaib, Buchert, Rebecca, Schaffer, Stefanie, Muhammad, Safia, Bak, Mads, Nöthen, Markus M., Bennett, Eric P., Maeda, Yusuke, Aigner, Michael, Reis, André, Kinoshita, Taroh, Tommerup, Niels, Baig, Shahid Mahmood, Abou Jamra, Rami
Format: Artigo
Langue:Inglês
Publié: Elsevier 2013
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3617372/
https://ncbi.nlm.nih.gov/pubmed/23561846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.03.008
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