Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

Pulmonary Arterial Hypertension (PAH) is a rare and fatal disease where knowledge about its genetic basis continues to increase. In this study, we used targeted panel sequencing in a cohort of 624 adult and pediatric patients from the Spanish PAH registry. We identified 11 rare variants in the ATP-b...

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Detalles Bibliográficos
Autores principales: Lago-Docampo, Mauro, Tenorio, Jair, Hernández-González, Ignacio, Pérez-Olivares, Carmen, Escribano-Subías, Pilar, Pousada, Guillermo, Baloira, Adolfo, Arenas, Miguel, Lapunzina, Pablo, Valverde, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7492224/
https://www.ncbi.nlm.nih.gov/pubmed/32934261
http://dx.doi.org/10.1038/s41598-020-72089-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7492224/
https://www.ncbi.nlm.nih.gov/pubmed/32934261
http://dx.doi.org/10.1038/s41598-020-72089-1

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