TuberousSclerosisComplex相关论文
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目的:对1个结节性硬化症(tuberous sclerosis complex, TSC)家系进行n TSC1和n TSC2基因变异分析，明确其可能的致病原因......
AIM To determine the character and prevalence of pulmonary cysts typical for lymphangioleiomyomatosis (LAM) in tuberous ......
Most individuals with tuberous sclerosis complex(TSC)are born with a mutant allele of either TSC1 or TSC2 and a mosaic o......
Objective In focal cortical dysplasia type Ⅱb (FCDⅡb) and tuberous sclerosis complex (TSC), malformative cortical lesi......
Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes.In ......
Expression of bone morphogenetic protein-4 in cortical lesions of focal cortical dysplasia Ⅱb and co
Objective Malformations of cortical development (MCDs) represent a well-recognized cause of intractable epilepsy.Bone mo......
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Tuberous sclerosis complex (TSC) is a neural skin syndrome caused by autosomal dominant disorder.TSC is characterize......
目的:对1例结节性硬化症患者进行基因变异分析，明确其可能的致病原因。方法:收集患者及父母的外周血，提取基因组DNA，应用高通量测序对......
目的 探讨结节性硬化痘合并癫痫患儿的临床特征.方法 回顾性分析33例结节性硬化症合并癫痫患儿的临床资料.结果 33例患儿中,不同癫......
TSC基因TSC1和TSC2分别编码蛋白hamartin和tuberin，最初在结节性硬化症中发现其存在突变，作为肿瘤抑制因子，除参与mTOR信号途径调节细......
