Article
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.
Genomics - 1 May 1991
Gasparini P, Nunes V, Savoia A, Dognini M, Morral N, Gaona A, Bonizzato A, Chillon M, Sangiuolo F, Novelli G
Abstract excerpt
The major mutation in the cystic fibrosis (CF) gene is a 3-bp deletion (delta F508) in exon 10. About 50% of the CF chromosomes in Southern Europe carry this mutation, while other previously described mutations account for less than 4%. To identify other common mutations in CF patients from the Mediterranean area, we have sequenced, exon by exon, 16 chromosomes that did not show the delta F508 deletion from a...
Topics
- Base Sequence
- Chromosome Deletion
- Cystic Fibrosis
- DNA
- DNA Mutational Analysis
- Exons
- Genetic Variation
- Haplotypes
- Humans
- Introns
- Italy