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[Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].

Xi bao yu fen zi mian yi xue za zhi = Chinese journal of cellular and molecular immunology - 1 Jan 2016

Huang Changyan

Abstract excerpt

OBJECTIVE: To establish a high-throughput sequencing method for rapid detection of gene mutations of tuberous sclerosis complex (TSC1/TSC2) disease. METHODS: A total of 10 patients with tuberous sclerosis disease and 10 healthy people were enrolled in this study. Long-chain polymerase chain reaction (PCR) was used to amplify all exon regions of TSC1 and TSC2 genes. The products were sequenced by Ion PGM(TM)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26728384

Genes

TSC1
TSC2

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