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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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Detalhes bibliográficos
Publicado no:Ups J Med Sci
Main Authors: Karlsson, Torbjörn, Cherif, Honar
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6198721/
https://ncbi.nlm.nih.gov/pubmed/30251589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/03009734.2018.1483452
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