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Article

Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.

Journal of human genetics - 1 Feb 2016

Yoshida Akiko, Morisaki Hiroko, Nakaji Mai, Kitano Masataka, Kim Ki-Sung, Sagawa Koichi, Ishikawa Shiro, Satokata Ichiro, Mitani Yoshihide, Kato Hitoshi, Hamaoka Kenji, Echigo Shigeyuki, Shiraishi Isao, Morisaki Takayuki

Abstract excerpt

Congenital heart disease (CHD) is the most common birth defect occurring in humans and some transcriptional factors have been identified as causative. However, additional mutation analysis of these genes is necessary to develop effective diagnostic and medical treatment methods. We conducted sequence analysis of the coding regions of NKX2.5, GATA4, TBX1, TBX5, TBX20, CFC1 and ZIC3 in 111 Japanese patients with...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GATA4 Transcription Factor

Share to Heart Defects, Congenital

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Share to Polymorphism, Genetic

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Source

Identifiers

PMID: 26490186
DOI: 10.1038/jhg.2015.126

Genes

GATA4
TBX5
TBX20
CFC1
TBX1
ZIC3

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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