Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

• Main Authors: Thomas Wittmann (Author), Sabrina Frixel (Author), Stefanie Höppner (Author), Ulrike Schindlbeck (Author), Andrea Schams (Author), Matthias Kappler (Author), Jan Hegermann (Author), Christoph Wrede (Author), Gerhard Liebisch (Author), Anne Vierzig (Author), Angela Zacharasiewicz (Author), Matthias Volkmar Kopp (Author), Christian F Poets (Author), Winfried Baden (Author), Dominik Hartl (Author), Anton H van Kaam (Author), Peter Lohse (Author), Charalampos Aslanidis (Author), Ralf Zarbock (Author), Matthias Griese (Author)
• Format: Book
• Published: BMC, 2016-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract The ABCA3 gene encodes a lipid transporter in type II pneumocytes critical for survival and normal respiratory function. The frequent ABCA3 variant R288K increases the risk for neonatal respiratory distress syndrome among term and late preterm neonates, but its role in children's inter...