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Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2006

Tang Zhao-hui, Xia Li, Chang Wei, Li Hua, Shen Fang, Liu Jing-yu, Wang Qing, Liu Mu-gen

Abstract excerpt

OBJECTIVE: To identify mutations in GATA4 gene in Chinese patients with sporadic congenital heart defects (CHD). METHODS: Single stranded conformation polymorphism (SSCP) analysis was performed to screen for mutations in all six exons and exon-intron boundaries of GATA4 in 31 individuals with CHD. Direct DNA sequencing was used to identify the specific mutations. RESULTS: Two novel missense mutations, V267M in...

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Identifiers

PMID: 16604480

Genes

GATA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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