Article
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.
American journal of human genetics - 1 Mar 2018
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
Abstract excerpt
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 alveolar type II epithelial cells. GPAP is also caused by mutations in genes whose products are implicated in surfactant...
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