Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Mutations in either ENG or ACVRL1 account for around 85% of cases, and 10% are large deletions and duplications. Here we present a large novel deletion in ACVRL1 gene and its molecular characterization in a 3 ge...

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Detalhes bibliográficos
Main Authors: Boeri, Laura, Radi, Orietta, Canzonieri, Cecilia, Buscarini, Elisabetta, Scatigno, Agnese, Minelli, Antonella, Ornati, Federica, Pagella, Fabio, Danesino, Cesare, Olivieri, Carla
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2013
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3638981/
https://ncbi.nlm.nih.gov/pubmed/23653583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000347029
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