Article
An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia.
PloS one - 1 Jan 2013
Yu Qian, Shen Xiao-Hui, Li Ying, Li Rui-Juan, Li Ji, Luo Yun-Ya, Liu Su-Fang, Deng Ming-Yang, Pei Min-Fei, Zhang Guang-Sen
Abstract excerpt
PURPOSE: To identify a novel pathogenic gene mutation present in a Chinese family with hereditary hemorrhagic telangiectasia (HHT) and to determine if an intron mutation may influence the transcriptional activity of the ACVRL1 gene. METHODS: HHT family members were ascertained following the presentation of proband and involved subjects. All family members (n = 5) and 113 healthy individuals were genotyped for the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.