title: Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.
authors.affiliation: U955, Equipe 11, Créteil.
authors.forename: Ralph
authors.initials: R
authors.lastname: Epaud
authors.forename: Céline
authors.initials: C
authors.lastname: Delestrain
authors.forename: Malek
authors.initials: M
authors.lastname: Louha
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Simon
authors.forename: Pascale
authors.initials: P
authors.lastname: Fanen
authors.forename: Abdellatif
authors.initials: A
authors.lastname: Tazi
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D006579:Heterozygote; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging; D008297:Male; D009154:Mutation; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D011658:Pulmonary Fibrosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics; D011663:Pulmonary Surfactants / Q000378:metabolism; D013577:Syndrome; D014057:Tomography, X-Ray Computed
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D037721:Pulmonary Surfactant-Associated Protein C; D011663:Pulmonary Surfactants; C489679:SFTPC protein, human