Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.

doi:10.1002/humu.1380020104

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Article

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.

Human mutation - 1 Jan 1993

Mercier B, Lissens W, Audrézet M P, Bonduelle M, Liebaers I, Ferec C

Abstract excerpt

We have analysed 194 Belgian CF chromosomes using a variety of techniques: delta F508 was detected by polyacrylamide gel electrophoresis; dot blotting of PCR products was used to identify the mutations G542X, 1717-1 G-->A, and N1303K; molecular defects in exons 2, 3, 4, 5, 6b, 7, 11, 12, 13, 14a,...

Topics

Adolescent
Base Sequence
Belgium
Cystic Fibrosis
DNA
DNA Mutational Analysis
Exons
Female
Humans
Male
Molecular Sequence Data
Mutation

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