Article
Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF.
Human heredity - 1 Jan 2000
Guilloud-Bataille M, De Crozes D, Rault G, Degioanni A, Feingold J
Abstract excerpt
Data from 2,666 patients with cystic fibrosis (CF) born in France, submitted during the period of 1992-1996 to the French registry for CF, were used to describe the different mutations, their frequency and their regional distribution. A total of 5,332 CF chromosomes have been analyzed, demonstrating 229 different mutations and accounting for 87% of CF genes in the French population. DeltaF508 is the most common...
Topics
- Cystic Fibrosis
- Female
- France
- Humans
- Male
- Mutation
- Registries