Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University Hospital

Aim: The aim of this retrospective single-centre study was to evaluate whether mutations in the ENG, ACVRL1, and SMAD4 genes were associated with different phenotypes in hereditary haemorrhagic telangiectasia (HHT). Methods: The case records of 21 HHT patients with verified mutations in ENG, ACVRL1,...

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Detalles Bibliográficos
Autores principales: Karlsson, Torbjörn, Cherif, Honar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198721/
https://www.ncbi.nlm.nih.gov/pubmed/30251589
http://dx.doi.org/10.1080/03009734.2018.1483452

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198721/
https://www.ncbi.nlm.nih.gov/pubmed/30251589
http://dx.doi.org/10.1080/03009734.2018.1483452

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