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      Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

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          Abstract

          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.

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          Author and article information

          Journal
          Am. J. Respir. Crit. Care Med.
          American journal of respiratory and critical care medicine
          1535-4970
          1073-449X
          Jun 15 2014
          : 189
          : 12
          Affiliations
          [1 ] 1 Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
          Article
          10.1164/rccm.201402-0342OC
          4226019
          24871971

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