Autologous correction in patient induced pluripotent stem cell-endothelial cells to identify a novel pathogenic mutation of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia is a rare disease with autosomal dominant inheritance. More than 80% hereditary hemorrhagic telangiectasia patients carry heterozygous mutations of Endoglin or Activin receptor-like kinase-1 genes. Endoglin plays important roles in vasculogenesis and human vascu...

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Detalles Bibliográficos
Autores principales: Zhou, Fang, Zhao, Xiuli, Liu, Xiu, Liu, Yanyan, Ma, Feng, Liu, Bao, Yang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691931/
https://www.ncbi.nlm.nih.gov/pubmed/33282178
http://dx.doi.org/10.1177/2045894019885357

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