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Two novel mutations in surfactant protein-C, lung function and obstructive lung disease

✍ Scribed by Marie Bækvad-Hansen; Børge G. Nordestgaard; Anne Tybjærg-Hansen; Morten Dahl

Book ID
116872619
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
545 KB
Volume
104
Category
Article
ISSN
0954-6111

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NKX2-1 (NK2 homeobox 1) is a critical regulator of transcription for the surfactant protein (SP)-B and -C genes (SFTPB and SFTPC, respectively). We identified and functionally characterized two new de novo NKX2-1 mutations c.493C>T (p.R165W) and c.786\_787del2 (p.L263fs) in infants with closely simi