5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. Howe...

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Detalhes bibliográficos
Main Authors: Damjanovich, Kristy, Langa, Carmen, Blanco, Francisco J, McDonald, Jamie, Botella, Luisa M, Bernabeu, Carmelo, Wooderchak-Donahue, Whitney, Stevenson, David A, Bayrak-Toydemir, Pinar
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3277489/
https://ncbi.nlm.nih.gov/pubmed/22192717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-85
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