sporadic mutation

This report performed DNA screening mainly in sporadic idiopathic nocturnal frontal lobe epilepsy and part of the familial nocturnal frontal lobe epilepsy cases in China. No gene mutation in known regions of neuronal nicotinic acetylcholine receptor ( nAChR) was found.

本研究主要针对我国散发性夜间额叶癫痫及部分家族性夜间额叶癫痫病例进行基因筛查，没有发现神经元烟碱乙酰胆碱受体（nAChR）目前已经确定的位点的基因突变。

Objective To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex ( TSC).

目的检测两例中国汉族结节性硬化症散发病例的基因突变位点。

There is no mutation of STA gene in sporadic EDMD.

散发性EDMD的STA基因无突变。

Objective To explore the mutation of RET exon 13 in sporadic medullary thyroid carcinoma.

目的研究散发型甲状腺髓样癌酪氨酸激酶受体基因(RET)第13外显子的突变情况.