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Fatal Familial Lung Disease Caused by ABCA3 Deficiency without Identified ABCA3 Mutations
Authors:W. Adam Gower  Susan E. Wert  Jennifer S. Ginsberg  Agneta Golan  Jeffrey A. Whitsett  Lawrence M. Nogee
Affiliation:a Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD
b Department of Pediatrics, Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH
c Department of Neonatology, Soroka Medical Center, Beer Sheva, Israe
Abstract:
Keywords:ABCA3, Member A3 of the ATP Binding Cassette family   ABCC7, Member C7 of the ATP Binding Cassette family   CF, Cystic fibrosis   CFTR, Cystic fibrosis transmembrane regulator   DOL, Day of life   EM, Electron microscopy   H&  E, Hematoxylin and eosin   LB, Lamellar body   mRNA, Messenger RNA   PCR, Polymerase chain reaction   proSP-B, Pro surfactant protein B   proSP-C, Pro surfactant protein C   SFTPB, Gene locus for SP-B   SFTPC, Gene locus for SP-C   SP-B, Surfactant protein B   SP-C, Surfactant protein C   UTR, Untranslated region
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