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A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia

Different genes related to alveolar stability have been associated with familial interstitial pneumonia (FIP). Here, we report a novel, rare SFTPA1 variant in a family with idiopathic interstitial pneumonia (IIP). We performed whole-exome sequencing on germline DNA samples from four members of one f...

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Detalles Bibliográficos
Autores principales:	Doubková, Martina, Staňo Kozubík, Kateřina, Radová, Lenka, Pešová, Michaela, Trizuljak, Jakub, Pál, Karol, Svobodová, Klára, Réblová, Kamila, Svozilová, Hana, Vrzalová, Zuzana, Pospíšilová, Šárka, Doubek, Michael
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399245/ https://www.ncbi.nlm.nih.gov/pubmed/30854216 http://dx.doi.org/10.1038/s41439-019-0044-z

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