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Genetic disorders of the surfactant system: focus on adult disease

Coline H.M. van Moorsel, Joanne J. van der Vis, Jan C. Grutters
European Respiratory Review 2021 30: 200085; DOI: 10.1183/16000617.0085-2020
Coline H.M. van Moorsel
1Dept of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, The Netherlands
2Division of Hearts and Lungs, University Medical Center Utrecht, Utrecht, The Netherlands
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Joanne J. van der Vis
1Dept of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, The Netherlands
3Dept of Clinical Chemistry, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, The Netherlands
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Jan C. Grutters
1Dept of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, The Netherlands
2Division of Hearts and Lungs, University Medical Center Utrecht, Utrecht, The Netherlands
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Article Information

vol. 30 no. 159
DOI 
https://doi.org/10.1183/16000617.0085-2020
PubMed 
33597124

Published By 
European Respiratory Society
Print ISSN 
0905-9180
Online ISSN 
1600-0617
History 
  • Received April 6, 2020
  • Accepted July 30, 2020
  • Published online February 16, 2021.

Copyright & Usage 
Copyright ©ERS 2021 This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.

Author Information

  1. Coline H.M. van Moorsel1,2,
  2. Joanne J. van der Vis1,3 and
  3. Jan C. Grutters1,2
  1. 1Dept of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, The Netherlands
  2. 2Division of Hearts and Lungs, University Medical Center Utrecht, Utrecht, The Netherlands
  3. 3Dept of Clinical Chemistry, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, The Netherlands
  1. Coline H.M. van Moorsel, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein, Koekoekslaan 1, 3435CM Nieuwegein, The Netherlands. E-mail: c.van.moorsel{at}antoniusziekenhuis.nl.
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Funding

  • ZonMw

    Topzorg grant (grant number 842002001)

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Vol 30 Issue 159 Table of Contents
European Respiratory Review: 30 (159)
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Genetic disorders of the surfactant system: focus on adult disease
Coline H.M. van Moorsel, Joanne J. van der Vis, Jan C. Grutters
European Respiratory Review Mar 2021, 30 (159) 200085; DOI: 10.1183/16000617.0085-2020

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Genetic disorders of the surfactant system: focus on adult disease
Coline H.M. van Moorsel, Joanne J. van der Vis, Jan C. Grutters
European Respiratory Review Mar 2021, 30 (159) 200085; DOI: 10.1183/16000617.0085-2020
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  • Article
    • Abstract
    • Abstract
    • Surfactant-related genes
    • Surfactant proteins B and C
    • SFTPB gene mutations
    • SFTPC gene mutations
    • Lamellar body protein gene ABCA3
    • Surfactant proteins A and D
    • SFTPA2 gene mutations
    • SFTPA1 gene mutations
    • Pathogenesis
    • Mutation spectrum
    • Age
    • Sex in adult-onset disease
    • Radiological and histological findings
    • Lung cancer
    • Genetic testing
    • Therapy
    • Conclusion
    • Footnotes
    • References
  • Figures & Data
  • Info & Metrics
  • PDF

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