Article
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
The European respiratory journal - 1 Dec 2020
Legendre Marie, Butt Afifaa, Borie Raphaël, Debray Marie-Pierre, Bouvry Diane, Filhol-Blin Emilie, Desroziers Tifenn, Nau Valérie, Copin Bruno, Dastot-Le Moal Florence, Héry Mélanie, Duquesnoy Philippe, Allou Nathalie, Bergeron Anne, Bermudez Julien, Cazes Aurélie, Chene Anne-Laure, Cottin Vincent, Crestani Bruno, Dalphin Jean-Charles, Dombret Christine, Doray Bérénice, Dupin Clairelyne, Giraud Violaine, Gondouin Anne, Gouya Laurent, Israël-Biet Dominique, Kannengiesser Caroline, Le Borgne Aurélie, Leroy Sylvie, Longchampt Elisabeth, Lorillon Gwenaël, Nunes Hilario, Picard Clément, Reynaud-Gaubert Martine, Traclet Julie, de Vuyst Paul, Coulomb L'Hermine Aurore, Clement Annick, Amselem Serge, Nathan Nadia
Abstract excerpt
INTRODUCTION: Interstitial lung diseases (ILDs) can be caused by mutations in the SFTPA1 and SFTPA2 genes, which encode the surfactant protein (SP) complex SP-A. Only 11 SFTPA1 or SFTPA2 mutations have so far been reported worldwide, of which five have been functionally assessed. In the framework of ILD molecular diagnosis, we identified 14 independent patients with pathogenic SFTPA1 or SFTPA2 mutations. The...
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