Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, ca...

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Bibliographische Detailangaben
Veröffentlicht in:BMC Med Genet
Hauptverfasser: Albiñana, Virginia, Zafra, Ma Paz, Colau, Jorge, Zarrabeitia, Roberto, Recio-Poveda, Lucia, Olavarrieta, Leticia, Pérez-Pérez, Julián, Botella, Luisa M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2017
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5324315/
https://ncbi.nlm.nih.gov/pubmed/28231770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0380-0
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