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- Aaron Hamvas, F Sessions Cole, and Lawrence M Nogee.
- Edward Mallinckrodt Department of Pediatrics, Washington University and St. Louis Children's Hospital, St. Louis, MO 63110, USA. hamvas@kids.wustl.edu
- Neonatology. 2007 Jan 1; 91 (4): 311-7.
AbstractInherited disorders of pulmonary surfactant-associated proteins are rare but provide important insights into unique mechanisms of surfactant dysfunction. Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and dominant mutations in the surfactant protein-C gene result in interstitial lung disease in older infants and children. The molecular basis and the genetic and tissue-based approaches to the evaluation of children suspected of having one of these disorders are discussed.Copyright (c) 2007 S. Karger AG, Basel.
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