Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
نویسندگان
چکیده
منابع مشابه
Protein Implicated in Nonsyndromic Mental Retardation Regulates Protein Kinase A (PKA) Activity
Mutation of the coiled-coil and C2 domain-containing 1A (CC2D1A) gene, which encodes a C2 domain and DM14 domain-containing protein, has been linked to severe autosomal recessive nonsyndromic mental retardation. Using a mouse model that produces a truncated form of CC2D1A that lacks the C2 domain and three of the four DM14 domains, we show that CC2D1A is important for neuronal differentiation a...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2008
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2008.03.021