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PubMed (cited) for id: 619611

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Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
Legendre M, Butt A, Borie R, Debray MP, Bouvry D, Filhol-Blin E, Desroziers T, Nau V, Copin B, Dastot-Le Moal F, Héry M, Duquesnoy P, Allou N, Bergeron A, Bermudez J, Cazes A, Chene AL, Cottin V, Crestani B, Dalphin JC, Dombret C, Doray B, Dupin C, Giraud V, Gondouin A, Gouya L, Israël-Biet D, Kannengiesser C, Le Borgne A, Leroy S, Longchampt E, Lorillon G, Nunes H, Picard C, Reynaud-Gaubert M, Traclet J, de Vuyst P, Coulomb L'Hermine A, Clement A, Amselem S, Nathan N. Legendre M, et al. Eur Respir J. 2020 Dec 24;56(6):2002806. doi: 10.1183/13993003.02806-2020. Print 2020 Dec. Eur Respir J. 2020. PMID: 32855221 Free article.
A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia.
Doubková M, Staňo Kozubík K, Radová L, Pešová M, Trizuljak J, Pál K, Svobodová K, Réblová K, Svozilová H, Vrzalová Z, Pospíšilová Š, Doubek M. Doubková M, et al. Hum Genome Var. 2019 Mar 5;6:12. doi: 10.1038/s41439-019-0044-z. eCollection 2019. Hum Genome Var. 2019. PMID: 30854216 Free PMC article.
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.
Nathan N, Giraud V, Picard C, Nunes H, Dastot-Le Moal F, Copin B, Galeron L, De Ligniville A, Kuziner N, Reynaud-Gaubert M, Valeyre D, Couderc LJ, Chinet T, Borie R, Crestani B, Simansour M, Nau V, Tissier S, Duquesnoy P, Mansour-Hendili L, Legendre M, Kannengiesser C, Coulomb-L'Hermine A, Gouya L, Amselem S, Clement A. Nathan N, et al. Hum Mol Genet. 2016 Apr 15;25(8):1457-67. doi: 10.1093/hmg/ddw014. Epub 2016 Jan 19. Hum Mol Genet. 2016. PMID: 26792177