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[Analysis of gene mutations in two patients with tuberous sclerosis complex].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae - 1 Apr 2007

Yuan Cheng-Da, Chang Xiao-Li, Wu Yao-Qun, Liu Qin, Gao Min, Xiao Feng-Li, Zhou Fu-Sheng, Yang Sen, Liu Jian-Jun, Zhang Xue-Jun

Abstract excerpt

OBJECTIVE: To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex (TSC). METHODS: All the coding exons of TSC1 and TSC2 genes of these two patients, unaffected member in the two families, and 100 unrelated population-matched controls were amplified by polymerase chain reaction. The products were analyzed by direct sequencing. RESULT: Two TSC2 gene mutations (c. 268C > T, c. 5...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17536269

Genes

TSC2
TSC1

Provenance

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