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Article

Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

Circulation journal : official journal of the Japanese Circulation Society - 1 Jan 2012

Kodo Kazuki, Nishizawa Tsutomu, Furutani Michiko, Arai Shoichi, Ishihara Kazuaki, Oda Mayumi, Makino Shinji, Fukuda Keiichi, Takahashi Takao, Matsuoka Rumiko, Nakanishi Toshio, Yamagishi Hiroyuki

Abstract excerpt

BACKGROUND: The genetic basis of most congenital heart defects (CHDs), especially non-syndromic and non-familial conditions, remains largely unknown. METHODS AND RESULTS: DNA samples were collected from immortalized cell lines and original genomes of 256 non-syndromic, non-familial patients with cardiac outflow tract (OFT) defects. Genes encoding NKX2.5, GATA4, GATA6, MEF2C, and ISL1, essential for heart...

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Identifiers

PMID: 22498567
DOI: 10.1253/circj.cj-11-1389

Genes

GATA4
GATA6
ISL1

Variants

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