Article
Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion.
Human molecular genetics - 1 Jun 1993
Morral N, Nunes V, Casals T, Cobos N, Asensio O, Dapena J, Estivill X
Abstract excerpt
More than 250 mutations have been detected in the cystic fibrosis (CF) transmembrane regulator (CFTR) gene, most of which are single point mutations or small deletions or insertions of a few nucleotides. Here we report the first large deletion identified in the CFTR gene, which involves 50 kb in...
Topics
- Adult
- Alleles
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- DNA, Satellite
- Exons
- Female
- Gene Frequency
- Genes
- Haplotypes
- Humans
- Male
- Membrane Proteins
- Parents
- Polymerase Chain Reaction