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A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations in multiple organs. Different deletions or nonsense mutations have been described in the ENG (HHT1) or ACVRL1/ALK1 (HHT2) g...

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Detalles Bibliográficos
Autores principales:	Errasti Díaz, Suriel, Peñalva, Mercedes, Recio-Poveda, Lucía, Vilches, Susana, Casado-Vela, Juan, Pérez Pérez, Julián, Botella, Luisa María, Albiñana, Virginia, Cuesta, Angel M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9181680/ https://www.ncbi.nlm.nih.gov/pubmed/35683441 http://dx.doi.org/10.3390/jcm11113053

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