Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

Aaron Hamvas, Lawrence M. Nogee, Daniel J. Wegner, Kelcey DePass, John Christodoulou, Bruce Bennetts, Leon R. McQuade, Peter H. Gray, Robin R. Deterding, Travis R. Carroll, Anja Kammesheidt, Laura M. Kasch, Shashikant Kulkarni, F. Sessions Cole

Research output: Contribution to journalArticle

26 Citations (Scopus)
Original languageEnglish
Pages (from-to)854-859
Number of pages6
JournalJournal of Pediatrics
Issue number6
Publication statusPublished - 2009
Externally publishedYes


  • ABCA3, ATP binding cassette subfamily A, member 3
  • ABCA3, ABCA3 gene
  • PCR, Polymerase chain reaction
  • SP-B, Surfactant protein-B
  • SFTPB, SP-B gene
  • SP-C, Surfactant protein-C
  • SFTPC, SP-C gene
  • UPD, Uniparental disomy

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