A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

• Published in: Respiratory research Vol. 15; no. 1; p. 43
• Main Authors: Campo, Ilaria, Zorzetto, Michele, Mariani, Francesca, Kadija, Zamir, Morbini, Patrizia, Dore, Roberto, Kaltenborn, Eva, Frixel, Sabrina, Zarbock, Ralf, Liebisch, Gerhard, Hegermann, Jan, Wrede, Christoph, Griese, Matthias, Luisetti, Maurizio
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 15.04.2014; BioMed Central
• Subjects: Adolescent; Amino Acid Sequence; ATP-Binding Cassette Transporters - genetics; Biomedical research; Biopsy; Carbon monoxide; Codon; Colleges & universities; Deoxyribonucleic acid; DNA; Ethics; Families & family life; Female; Gene expression; Genetic aspects; Genetic screening; Genetic testing; Genetic Variation - genetics; Glycine; HEK293 Cells; Hospitals; Humans; Lipids; Lung diseases; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Polymerase chain reaction; Protein C; Proteins; Pulmonary fibrosis; Pulmonary Fibrosis - diagnosis; Pulmonary Fibrosis - genetics; Surfactants; Telomerase; Thoracic surgery; Tomography; Germany

Interstitial lung disease occurring in children is a condition characterized by high frequency of cases due to genetic aberrations of pulmonary surfactant homeostasis, that are also believed to be responsible of a fraction of familial pulmonary fibrosis. To our knowledge, ABCA3 gene was not previous...