✦ LIBER ✦

Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation

✍ Scribed by Sorio, Claudio; Angiari, Chiara; Johansson, Jan; Verzè, Genny; Ettorre, Michele; Buffelli, Mario; Castellani, Carlo; Assael, Baroukh Maurice; Melotti, Paola

Book ID: 121393829
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 366 KB
Volume: 12
Category: Article
ISSN: 1569-1993
DOI: 10.1016/j.jcf.2012.12.014

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ivacaftor in Subjects With Cystic Fibros

Ivacaftor in Subjects With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation

✍ Flume, Patrick A. 📂 Article 📅 2012 🏛 American College of Chest Physicians 🌐 English ⚖ 834 KB

Mild cystic fibrosis in patients with th

Mild cystic fibrosis in patients with the rare P5L CFTR mutation

✍ Lucia Spicuzza; Concetta Sciuto; Lucia Di Dio; Teresa Mattina; Salvatore Leonard 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 107 KB

WS6.7 Cystic fibrosis and bone disease:

WS6.7 Cystic fibrosis and bone disease: defective osteoblast maturation with the F508del mutation in CFTR

✍ Velard, F.; Delion, M.; Le Henaff, C.; Tabary, O.; Guillaume, C.; Barthes, F.; T 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 65 KB

Population screening if F508del (ΔF508),

Population screening if F508del (ΔF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina

✍ María Roqué; Clara Pott Godoy; Mariana Castellanos; Eduardo Pusiol; Luis S. Mayo 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB

Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population. The disease can be caused by one of the more than 900 different mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. However, the deletion of the phe508-codon is the most pre

Clinical evaluation of VX-809, a novel i

Clinical evaluation of VX-809, a novel investigational oral F508del-CFTR corrector, in subjects with cystic fibrosis homozygous for the F508del–CFTR mutation

✍ J.P. Clancy; G. Spencer-Green 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 52 KB

61* VX-770 in subjects with cystic fibro

61* VX-770 in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation

✍ P.A. Flume; D.S. Borowitz; T.G. Liou; H. Li; K. Yen; C.L. Ordonez; D.E. Geller 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 45 KB