Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a vascular disease characterized by nose and gastrointestinal bleeding, telangiectases in skin and mucosa, and arteriovenous malformations in major internal organs. Most patients carry a mutation in the coding region of the endoglin (ENG) or activin A r...

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Detalles Bibliográficos
Autores principales: Ruiz-Llorente, Lidia, McDonald, Jamie, Wooderchak-Donahue, Whitney, Briggs, Eric, Chesnutt, Mark, Bayrak-Toydemir, Pinar, Bernabeu, Carmelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8075931/
https://www.ncbi.nlm.nih.gov/pubmed/30728427
http://dx.doi.org/10.1038/s10038-019-0564-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8075931/
https://www.ncbi.nlm.nih.gov/pubmed/30728427
http://dx.doi.org/10.1038/s10038-019-0564-x

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