Article
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Human mutation - 1 Apr 2018
Baatallah Nesrine, Bitam Sara, Martin Natacha, Servel Nathalie, Costes Bruno, Mekki Chadia, Chevalier Benoit, Pranke Iwona, Simonin Juliette, Girodon Emmanuelle, Hoffmann Brice, Mornon Jean-Paul, Callebaut Isabelle, Sermet-Gaudelus Isabelle, Fanen Pascale, Edelman Aleksander, Hinzpeter Alexandre
Abstract excerpt
Molecules correcting the trafficking (correctors) and gating defects (potentiators) of the cystic fibrosis causing mutation c.1521_1523delCTT (p.Phe508del) begin to be a useful treatment for CF patients bearing p.Phe508del. This mutation has been identified in different genetic contexts, alone or in combination with variants in cis. Until now, 21 exonic variants in cis of p.Phe508del have been identified, albeit...
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