Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation

Although autosomal forms of nonsyndromic mental retardation account for the majority of cases of mental retardation, the genes that are involved remain largely unknown. We sequenced the autosomal gene SYNGAP1, which encodes a ras GTPase-activating protein that is critical for cognition and synapse f...

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Detalhes bibliográficos
Main Authors: Hamdan, Fadi F., Gauthier, Julie, Spiegelman, Dan, Noreau, Anne, Yang, Yan, Pellerin, Stéphanie, Dobrzeniecka, Sylvia, Côté, Mélanie, Perreau-Linck, Elizabeth, Carmant, Lionel, D’Anjou, Guy, Fombonne, Éric, Addington, Anjene M., Rapoport, Judith L., Delisi, Lynn E., Krebs, Marie-Odile, Mouaffak, Faycal, Joober, Ridha, Mottron, Laurent, Drapeau, Pierre, Marineau, Claude, Lafrenière, Ronald G., Lacaille, Jean Claude, Rouleau, Guy A., Michaud, Jacques L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2925262/
https://ncbi.nlm.nih.gov/pubmed/19196676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0805392
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