Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension

Although mutations in several genes have been reported in pulmonary arterial hypertension (PAH), most of PAH cases do not carry these mutations. This study aimed to identify a novel cause of PAH. To determine the disease-causing variants, direct sequencing and multiplex ligation-dependent probe ampl...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Chida-Nagai, Ayako, Shintani, Masaki, Sato, Hiroki, Nakayama, Tomotaka, Nii, Masaki, Akagawa, Hiroyuki, Furukawa, Toru, Rana, Amer, Furutani, Yoshiyuki, Inai, Kei, Nonoyama, Shigeaki, Nakanishi, Toshio
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6355015/
https://ncbi.nlm.nih.gov/pubmed/30703135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0211450
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