Genotype–Phenotype Correlations for Infants and Children with ABCA3 Deficiency

Rationale: 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. Objectives: To determine genotype–phenotype correlations for recessive ABCA3 mutations. Methods: We r...

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Publicado en:Am J Respir Crit Care Med
Main Authors: Wambach, Jennifer A., Casey, Alicia M., Fishman, Martha P., Wegner, Daniel J., Wert, Susan E., Cole, F. Sessions, Hamvas, Aaron, Nogee, Lawrence M.
Formato: Artigo
Idioma:Inglês
Publicado: American Thoracic Society 2014
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Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4226019/
https://ncbi.nlm.nih.gov/pubmed/24871971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1164/rccm.201402-0342OC
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