A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension

BACKGROUND: Pulmonary arterial hypertension (PAH) is a severe lung disease with only few effective treatments available. Familial cases of PAH are usually recognized as an autosomal dominant disease, but incomplete penetrance of the disease makes it difficult to identify pathogenic variants in accor...

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Detalles Bibliográficos
Autores principales: Higasa, Koichiro, Ogawa, Aiko, Terao, Chikashi, Shimizu, Masakazu, Kosugi, Shinji, Yamada, Ryo, Date, Hiroshi, Matsubara, Hiromi, Matsuda, Fumihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383973/
https://www.ncbi.nlm.nih.gov/pubmed/28388887
http://dx.doi.org/10.1186/s12890-017-0400-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383973/
https://www.ncbi.nlm.nih.gov/pubmed/28388887
http://dx.doi.org/10.1186/s12890-017-0400-z

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