Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.

@article{Flamein2012MolecularAC,
  title={Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.},
  author={F. Flamein and L. Riffault and C{\'e}line Muselet-Charlier and J. Pernelle and D. Feldmann and L. Jonard and A. Durand‐Schneider and A. Coulomb and M. Maurice and L. Nogee and N. Inagaki and S. Amselem and J. Dubus and V. Rigourd and F. Br{\'e}mont and C. Marguet and J. Brouard and J. de Blic and A. Cl{\'e}ment and R. Epaud and L. Guillot},
  journal={Human molecular genetics},
  year={2012},
  volume={21 4},
  pages={
          765-75
        }
}
ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis. ABCA3 gene mutations have been associated with neonatal respiratory distress (NRD) and pediatric interstitial lung disease (ILD). The objective of this study was to look for ABCA3 gene mutations in patients with severe NRD and/or ILD. The 30 ABCA3 coding exons were screened in 47 patients with severe NRD and/or ILD… Expand
57 Citations

Paper Mentions

Observational Clinical Trial
Interstitial lung diseases (ILD) in children represent a heterogeneous group of rare and not well defined disorders. Genetic abnormalities of surfactant proteins B (SFTPB) and more… Expand
ConditionsChronic Lung Disease
InterventionOther
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