Article
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.
Human molecular genetics - 1 Jan 1994
Savov A, Mercier B, Kalaydjieva L, Férec C
Abstract excerpt
The CFTR gene, in which more than 300 mutations have been described, displays a spectrum of mutations which varies according to ethnic and geographic origin of patients. In this paper we report an exhaustive study of the 27 exons and exon/intron boundaries of a sample of 35 CF patients from Bulga...
Topics
- Amino Acid Sequence
- Base Sequence
- Bulgaria
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA, Satellite
- Exons
- Genetic Variation
- Humans
- Introns
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Repetitive Sequences, Nucleic Acid
- Restriction Mapping
- Sequence Deletion