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J Pediatr ; 150(6): 649-53, 653.e1, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17517255

ABSTRACT

Genetic abnormalities of pulmonary surfactant were identified by DNA sequence analysis in 14 (12 full-term, 2 preterm) of 17 newborn infants with fatal respiratory distress of unknown etiology. Deficiency of adenosine triphosphate-binding cassette protein, member A3 (n = 12) was a more frequent cause of this phenotype than deficiency of surfactant protein B (n = 2).


Subject(s)
ATP-Binding Cassette Transporters/genetics , Pulmonary Surfactant-Associated Protein B/genetics , Pulmonary Surfactant-Associated Protein C/genetics , Pulmonary Surfactants , Respiratory Distress Syndrome, Newborn/genetics , Sequence Analysis, DNA , Birth Weight , Female , Gestational Age , Humans , Immunohistochemistry , Infant, Newborn , Lung/diagnostic imaging , Male , Mutation, Missense , Phenotype , Pulmonary Surfactant-Associated Protein B/metabolism , Ultrasonography
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