Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency
Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency
About this item
Full title
Author / Creator
Publisher
New York, NY: American Thoracic Society
Journal title
Language
English
Formats
Publication information
Publisher
New York, NY: American Thoracic Society
Subjects
More information
Scope and Contents
Contents
Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease. Most ABCA3 mutations are private.
To determine genotype-phenotype correlations for recessive ABCA3 mutations.
We reviewed all published and unpublished ABCA3 sequence and phenotype data from...
Alternative Titles
Full title
Genotype-Phenotype Correlations for Infants and Children with ABCA3 Deficiency
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4226019
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4226019
Other Identifiers
ISSN
1073-449X
E-ISSN
1535-4970
DOI
10.1164/rccm.201402-0342OC
