一个患有非典型雷特综合征的家族中PDE2A基因的纯合剪接突变 - Suppr | 超能文献

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Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.一名女性雷特综合征患者的MECP2基因存在纯合的c.1160C>T（P38L）突变。

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Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.甲基化CpG结合蛋白2（MeCP2）突变、X染色体失活与表型之间的关联。

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Longevity, enhanced memory, and altered density of dendritic spines in hippocampal CA3 and dentate gyrus after hemizygous deletion of Pde2a in mice.小鼠半合子缺失Pde2a后，其寿命延长、记忆力增强，海马CA3区和齿状回的树突棘密度改变。

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Phosphodiesterase and psychiatric disorders: a two-sample Mendelian randomization study.