An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia.

An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia.

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.HHT family members were ascertained following the presentation of proband and...

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Bibliographic Details
Main Authors: Qian Yu, Xiao-Hui Shen, Ying Li, Rui-Juan Li, Ji Li, Yun-Ya Luo, Su-Fang Liu, Ming-Yang Deng, Min-Fei Pei, Guang-Sen Zhang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3584037?pdf=render

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http://europepmc.org/articles/PMC3584037?pdf=render

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