High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.

Abstract

In this report, we present updated spectrum and frequency of mutations of the CFTR gene that are responsible for cystic fibrosis (CF) in Languedoc-Roussillon (L-R), the southwestern part of France. A total of 75 different mutations were identified by DGGE in 215 families, accounting for 97.6% of CF genes and generating 88 different mutational genotypes. The… (More)

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Cite this paper

@article{Georges2004HighHO, title={High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.}, author={Marie des Georges and Caroline Guittard and J V Altieri and Carine Templin and Jacques Sarles and Pierre Sarda and Mireille Claustres}, journal={Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society}, year={2004}, volume={3 4}, pages={265-72} }