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Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension

Mutations in the bone morphogenetic protein receptor type II (BMPR2) gene may result in the development of pulmonary arterial hypertension (PAH). However, the contribution of disease-causing mutations to the disease characteristics and responsiveness to recent treatment remains to be elucidated. We...

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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Hara, Hironori, Takeda, Norifumi, Morita, Hiroyuki, Hatano, Masaru, Amiya, Eisuke, Maki, Hisataka, Minatsuki, Shun, Taki, Mizuri, Shiraishi, Yasuyuki, Fujiwara, Takayuki, Maemura, Sonoko, Komuro, Issei
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5397398/
https://ncbi.nlm.nih.gov/pubmed/28480048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.10
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