ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease
ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease
About this item
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Author / Creator
Publisher
Chichester, UK: John Wiley & Sons, Ltd
Journal title
Language
English
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Publication information
Publisher
Chichester, UK: John Wiley & Sons, Ltd
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Scope and Contents
Contents
Paediatric disorders of pulmonary surfactant may occur due to mutations involving surfactant proteins B and C, and ATP‐binding cassette subfamily A member 3 (ABCA3) genes. Recessive frameshift or nonsense ABCA3 mutations are associated with respiratory failure and neonatal death but milder phenotypes of ABCA3 deficiency due to missense, splice site...
Alternative Titles
Full title
ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease
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TN_cdi_doaj_primary_oai_doaj_org_article_94670cc02f4745c2904c3a4343e7cdb3
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_94670cc02f4745c2904c3a4343e7cdb3
Other Identifiers
ISSN
2051-3380
E-ISSN
2051-3380
DOI
10.1002/rcr2.633
