Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

Pulmonary alveolar proteinosis (PAP) is characterized by accumulation of a surfactant-like substance in alveolar spaces and hypoxemic respiratory failure. Genetic PAP (GPAP) is caused by mutations in genes encoding surfactant proteins or genes encoding a surfactant phospholipid transporter in alveol...

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Detalles Bibliográficos
Autores principales: Cho, Kazutoshi, Yamada, Masafumi, Agematsu, Kazunaga, Kanegane, Hirokazu, Miyake, Noriko, Ueki, Masahiro, Akimoto, Takuma, Kobayashi, Norimoto, Ikemoto, Satoru, Tanino, Mishie, Fujita, Atsushi, Hayasaka, Itaru, Miyamoto, Satoshi, Tanaka-Kubota, Mari, Nakata, Koh, Shiina, Masaaki, Ogata, Kazuhiro, Minakami, Hisanori, Matsumoto, Naomichi, Ariga, Tadashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985284/
https://www.ncbi.nlm.nih.gov/pubmed/29455859
http://dx.doi.org/10.1016/j.ajhg.2018.01.019

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