uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, autosomal dominant, vascular disorder. About 80% of cases are caused by pathogenic variants in ACVRL1 (also known as ALK1) and ENG, with the remaining cases being unexplained. We identified two variants, c.-79C>T and c.-68G>A, in the 5’UTR...

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Detalles Bibliográficos
Autores principales: Soukarieh, Omar, Tillet, Emmanuelle, Proust, Carole, Dupont, Charlène, Jaspard-Vinassa, Béatrice, Soubrier, Florent, Goyenvalle, Aurélie, Eyries, Mélanie, Trégouët, David-Alexandre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10582052/
https://www.ncbi.nlm.nih.gov/pubmed/37848456
http://dx.doi.org/10.1038/s41525-023-00378-5

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