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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Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2009
Gaiak:
Article
Sarrera elektronikoa: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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