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Article

Uncovering the rare variants of DLC1 isoform 1 and their functional effects in a Chinese sporadic congenital heart disease cohort.

PloS one - 1 Jan 2014

Lin Bin, Wang Yufeng, Wang Zhen, Tan Huilian, Kong Xianghua, Shu Yang, Zhang Yuchao, Huang Yun, Zhu Yufei, Xu Heng, Wang Zhiqiang, Wang Ping, Ning Guang, Kong Xiangyin, Hu Guohong, Hu Landian

Abstract excerpt

Congenital heart disease (CHD) is the most common birth defect affecting the structure and function of fetal hearts. Despite decades of extensive studies, the genetic mechanism of sporadic CHD remains obscure. Deleted in liver cancer 1 (DLC1) gene, encoding a GTPase-activating protein, is highly expressed in heart and essential for heart development according to the knowledge of Dlc1-deficient mice. To determine...

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PMID: 24587289
DOI: 10.1371/journal.pone.0090215
PMCID: PMC3938602

Genes

DLC1

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