PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Recently, mutations in genes involved in the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor have been identified in a new subclass of congenital disorders of glycosylation (CDGs) with a distinct spectrum of clinical features. To date, mutations have been identified in six genes (PIGA,...

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Auteurs principaux: Krawitz, Peter M., Murakami, Yoshiko, Rieß, Angelika, Hietala, Marja, Krüger, Ulrike, Zhu, Na, Kinoshita, Taroh, Mundlos, Stefan, Hecht, Jochen, Robinson, Peter N., Horn, Denise
Format: Artigo
Langue:Inglês
Publié: Elsevier 2013
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3617374/
https://ncbi.nlm.nih.gov/pubmed/23561847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.03.011
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