Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic featu...

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Autori principali: Howard, Malcolm F., Murakami, Yoshiko, Pagnamenta, Alistair T., Daumer-Haas, Cornelia, Fischer, Björn, Hecht, Jochen, Keays, David A., Knight, Samantha J.L., Kölsch, Uwe, Krüger, Ulrike, Leiz, Steffen, Maeda, Yusuke, Mitchell, Daphne, Mundlos, Stefan, Phillips, John A., Robinson, Peter N., Kini, Usha, Taylor, Jenny C., Horn, Denise, Kinoshita, Taroh, Krawitz, Peter M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3928656/
https://ncbi.nlm.nih.gov/pubmed/24439110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.12.012
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