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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Hlavní autoři:	Howard, M, Murakami, Y, Pagnamenta, A, Daumer-Haas, C, Fischer, B, Hecht, J, Keays, D, Knight, S, Kölsch, U, Krüger, U, Leiz, S, Maeda, Y, Mitchell, D, Mundlos, S, Phillips, J, Robinson, P, Kini, U, Taylor, J, Horn, D, Kinoshita, T, Krawitz, P
Médium:	Journal article
Jazyk:	English
Vydáno:	2014

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

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