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Article

[Analysis of TSC gene mutation in a patient with tuberous sclerosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2015

Zhang Zhengzhong, Lyu Yongmei, Mu Yunzhu, Yang Hao, Yang Ping, Liu Yiping, Liu Linli, Chen Xing, Sui Weichi

Abstract excerpt

OBJECTIVE: To identify pathogenic mutation of the TSC1 and TSC2 genes in a patient with tuberous sclerosis. METHODS: Peripheral venous blood samples and clinical data of a pregnant woman with tuberous sclerosis and 4 family members (parents, uncle and husband) were collected. Genomic DNA was extracted. All coding exons of the TSC1 and TSC2 genes and their flanking intronic sequences were amplified by polymerase...

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Identifiers

PMID: 26252095
DOI: 10.3760/cma.j.issn.1003-9406.2015.04.012

Genes

TSC2
TSC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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