Different course of lung disease in two siblings with novel ABCA3 mutations
Different course of lung disease in two siblings with novel ABCA3 mutations
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Mutations in the gene for adenosine triphosphate-binding cassette transporter subfamily A member 3 (ABCA3) have been reported in infants and children with surfactant deficiency and interstitial lung disease. We report a case of siblings found to be compound heterozygotes for two novel
ABCA3
gene mutations but developing very different course...
Alternative Titles
Full title
Different course of lung disease in two siblings with novel ABCA3 mutations
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_proquest_miscellaneous_1628879055
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1628879055
Other Identifiers
ISSN
0340-6199
E-ISSN
1432-1076
DOI
10.1007/s00431-013-2087-3
