Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Claustres, Mireille; Guittard, Caroline; Bozon, Dominique; Chevalier, Fran�oise; Verlingue, C.; Férec, Claude; Girodon, E.; Cazeneuve, C�cile; Bienvenu, Thierry; Lalau, G.; Dumur, Viviane; Feldmann, Delphine; Bieth, Éric; Blayau, Martine; Clavel, Christine; Creveaux, Isabelle; Malinge, Marie‐Claire; Monnier, Nicole; Malzac, Perrine; Mittre, Herv�; Chomel, Jean‐Claude; Bonnefont, Jean‐Paul; Iron, A.; Chery, Mich�le; des Georges, Marie

doi:10.1002/1098-1004(200008)16:2<143::aid-humu7>3.0.co;2-j

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Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Published in Human Mutation • Jan 1, 2000

Authors:

Mireille Claustres

Caroline Guittard

Dominique Bozon

Abstract

We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7, 420 CF alleles, demonstrating a total of 310 different mutations including 24 not reported previously, accounting for 93.56% of CF genes. The most common were F508del (6...

Subject

Cystic fibrosis

Genotype

Biology

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