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
Full title
ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease
Author / Creator
Journal title
Respirology case reports, 2020, Vol.8 (7), p.e00633-e00633
Language
English
Formats
More information
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
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2433240372
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2433240372
Other Identifiers
ISSN
2051-3380
E-ISSN
2051-3380
DOI
10.1002/rcr2.633
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