Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.

Abstract excerpt

Cystic fibrosis (CF) is the most frequent autosomal recessive inherited disorder in Caucasian populations. The disease is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified an 84-bp deletion in exon 13 of the CFTR gene, detected by DNA amplification and direct sequencing of 500 bp of the 5' end of exon 13. The deletion was in the maternal allele of a CF patient...

Topics

• Alleles
• Amino Acid Sequence
• Base Sequence
• Chromosome Deletion
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• DNA
• Exons
• Female
• Humans
• Male
• Membrane Proteins