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Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette, Subfamily A, Member 3 Genes |
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| Authors: | 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 |
| Institution: | a Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO b Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO c Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD d Fragment Analysis Facility, Johns Hopkins University School of Medicine, Baltimore, MD e Western Sydney Genetics Program, Children's Hospital at Westmead, New South Wales, Australia f Disciplines of Paediatrics and Child Health & Genetic Medicine, University of Sydney, Sydney, New South Wales, Australia g Department of Neonatology, University of Queensland Mater Mothers' Hospital, Brisbane, Queensland, Australia h Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO i Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT j Ambry Genetics, Aliso Viejo, CA |
| Abstract: | |
| Keywords: | 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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