𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Interstitial lung disease due to a defect in surfactant metabolism

✍ Scribed by Robert W. Wilmott

Book ID
113746078
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
78 KB
Volume
157
Category
Article
ISSN
1097-6833

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

NKX2-1 mutations leading to surfactant p
NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in β€œBrain-Lung-Thyroid Syndrome”
✍ LoΓ―c Guillot; Aurore CarrΓ©; Gabor Szinnai; Mireille Castanet; Elodie Tron; Franc πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 619 KB

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