Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.-论文-万方医学网

作者： Martin H,Berryer ^[1] ; Fadi F,Hamdan ; Laura L,Klitten ; Rikke S,Møller ; Lionel,Carmant ; Jeremy,Schwartzentruber ; Lysanne,Patry ; Sylvia,Dobrzeniecka ; Daniel,Rochefort ; Mathilde,Neugnot-Cerioli ; Jean-Claude,Lacaille ; Zhiyv,Niu ; Christine M,Eng ; Yaping,Yang ; Sylvain,Palardy ; Céline,Belhumeur ; Guy A,Rouleau ; Niels,Tommerup ; Ladonna,Immken ; Miriam H,Beauchamp ; Gayle Simpson,Patel ; Jacek,Majewski ; Mark A,Tarnopolsky ; Klaus,Scheffzek ; Helle,Hjalgrim ; Jacques L,Michaud ; Graziella,Di Cristo

作者单位： Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montréal, Québec, Canada. ^[1]

主题词青少年(Adolescent);氨基酸序列(Amino Acid Sequence);孤独性障碍(Autistic Disorder);印迹法, 蛋白质(Blotting, Western);儿童(Child);儿童, 学龄前(Child, Preschool);克隆, 分子(Cloning, Molecular);癫痫(Epilepsy);细胞外信号调节MAP激酶类(Extracellular Signal-Regulated MAP Kinases);女(雌)性(Female);HEK293细胞(HEK293 Cells);单倍剂量不足(Haploinsufficiency);人类(Humans);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变, 误义(Mutation, Missense);表型(Phenotype);磷酰化(Phosphorylation);蛋白质构象(Protein Conformation);序列分析, DNA(Sequence Analysis, DNA);转染(Transfection);ras GTP酶激活蛋白质类(ras GTPase-Activating Proteins)

DOI 10.1002/humu.22248

PMID 23161826

发布时间 2022-03-31

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Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Human mutation

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Human mutation

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Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

Human mutation

相似文献

Human mutation

相关期刊

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