Bioinformatic Analysis of Pathogenic Missense Mutations of Activin Receptor Like Kinase 1 Ectodomain

Activin A receptor, type II-like kinase 1 (also called ALK1), is a serine-threonine kinase predominantly expressed on endothelial cells surface. Mutations in its ACVRL1 encoding gene (12q11-14) cause type 2 Hereditary Haemorrhagic Telangiectasia (HHT2), an autosomal dominant multisystem vascular dys...

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Detalles Bibliográficos
Autores principales: Scotti, Claudia, Olivieri, Carla, Boeri, Laura, Canzonieri, Cecilia, Ornati, Federica, Buscarini, Elisabetta, Pagella, Fabio, Danesino, Cesare
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196573/
https://www.ncbi.nlm.nih.gov/pubmed/22028876
http://dx.doi.org/10.1371/journal.pone.0026431

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