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Article

[Mutation screening and prenatal diagnosis of tuberous sclerosis complex].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2011

Li Wen, Zhou Li-hua, Gao Bo-di, Li Lu-yun, Zhong Chang-gao, Gong Fei, Xiao Hong-mei, Song Tao, Lu Guang-xiu

Abstract excerpt

OBJECTIVE: To screen mutations of tuberous sclerosis complex (TSC) patients to confirm a clinical diagnosis of TSC, and to perform prenatal diagnosis for families with mutations. METHODS: In this study, PCR-denaturing high-performance liquid chromatography(DHPLC), supplemented with sequencing when necessary, was used to screen TSC1 and TSC2 mutations in 21 patients from 19 pedigrees visited author's hospital in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21811971
DOI: 10.3760/cma.j.issn.1003-9406.2011.04.001

Genes

TSC1
TSC2

Variants

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