Article
The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2014
De Boeck K, Zolin A, Cuppens H, Olesen H V, Viviani L
Abstract excerpt
More than 1900 different mutations in the CFTR gene have been reported. These are grouped into classes according to their effect on the synthesis and/or function of the CFTR protein. CFTR repair therapies that are mutation or mutation class specific are under development. To progress efficiently in the clinical phase of drug development, knowledge of the relative frequency of CFTR mutation classes in different...
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