An Intron Mutation in the ACVRL1 May Be Associated with a Transcriptional Regulation Defect in a Chinese Family with Hereditary Hemorrhagic Telangiectasia

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 presenta...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584037/
https://www.ncbi.nlm.nih.gov/pubmed/23460919
http://dx.doi.org/10.1371/journal.pone.0058031

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