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Whole-Genome Sequencing of a Family with Hereditary Pulmonary Alveolar Proteinosis Identifies a Rare Structural Variant Involving CSF2RA/CRLF2/IL3RA Gene Disruption

Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease in which the abnormalities in alveolar surfactant accumulation are caused by impairments of GM-CSF pathway attributing to defects in a variety of genes. However, hereditary PAP is extremely uncommon and a detailed understanding in the...

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Detalles Bibliográficos
Autores principales:	Chiu, Chih-Yung, Su, Shih-Chi, Fan, Wen-Lang, Lai, Shen-Hao, Tsai, Ming-Han, Chen, Shih-Hsiang, Wong, Kin-Sun, Chung, Wen-Hung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324064/ https://www.ncbi.nlm.nih.gov/pubmed/28233860 http://dx.doi.org/10.1038/srep43469

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