Identification of a cystic fibrosis mutation: deletion of isoleucine506.

Abstract excerpt

The recent isolation of the cystic fibrosis (CF) gene has resulted in the identification of a common mutation (delta F508) that is found on about 70% of CF chromosomes and that comprises a deletion of 3 bp and results in the omission of Phe508 from within a putative ATP-binding domain of the predicted gene product. We describe a CF mutation that involves the deletion of 3 bp encoding Ile506 or Ile507. This is a...

Topics

• Amino Acid Sequence
• Base Sequence
• Child
• Chromosome Deletion
• Cystic Fibrosis
• Humans
• Isoleucine
• Molecular Sequence Data
• Mutation
• Oligonucleotide Probes
• Polymerase Chain Reaction