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Article

A novel mutation of GATA4 in a familial atrial septal defect.

Clinica chimica acta; international journal of clinical chemistry - 11 Nov 2010

Chen Ying, Mao Jun, Sun Ying, Zhang Qiang, Cheng Hong-Bo, Yan Wen-Hua, Choy Kwong Wai, Li Hong

Abstract excerpt

BACKGROUND: Previous studies have identified that mutations in a few genes, including T-BOX5, NKX2-5, EVC and GATA4, are associated with atrial septal defect (ASD). METHODS: A family of three generations with 4 members who were affected with ASD was investigated. To exclude the presence of any sub-microscopic chromosomal imbalance, high-resolution 1M array-based comparative genomic hybridization (aCGH) was...

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Source

Identifiers

PMID: 20659440
DOI: 10.1016/j.cca.2010.07.021

Genes

GATA4
EVC

Variants

Provenance

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