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

✍ Scribed by Velard, F.; Delion, M.; Le Henaff, C.; Tabary, O.; Guillaume, C.; Barthes, F.; Touqui, L.; Gangloff, S.; Sermet-Gaudelus, I.; Jacquot, J.

Book ID: 124106950
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 65 KB
Volume: 13
Category: Article
ISSN: 1569-1993
DOI: 10.1016/S1569-1993(14)60043-6

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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