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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355015/ https://www.ncbi.nlm.nih.gov/pubmed/30703135 http://dx.doi.org/10.1371/journal.pone.0211450

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