Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia syndrome (HHT) or Rendu-Osler-Weber (ROW) syndrome is an autosomal dominant vascular disorder. Two most common forms of HHT, HHT1 and HHT2, have been linked to mutations in the endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1or ALK1) genes respectively....

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Publicado en:PLoS One
Autores principales: Alaa el Din, Ferdos, Patri, Sylvie, Thoreau, Vincent, Rodriguez-Ballesteros, Montserrat, Hamade, Eva, Bailly, Sabine, Gilbert-Dussardier, Brigitte, Abou Merhi, Raghida, Kitzis, Alain
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2015
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4503601/
https://ncbi.nlm.nih.gov/pubmed/26176610
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0132111
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