3849+10 kb C-->T mutation and disease severity in cystic fibrosis.

Abstract excerpt

50% of patients with cystic fibrosis (CF) are homozygous for the delta F508 mutation, but the remainder have at least one of many other less common mutations. The 3849 + 10 kb C-->T splice mutation seems to be associated with less severe disease. We report ten CF patients who are hemizygous for t...

Topics

• Adolescent
• Adult
• Alleles
• Child
• Cystic Fibrosis
• Female
• Genes, Recessive
• Genotype
• Humans
• Male
• Mutation
• Oligospermia
• Polymorphism, Restriction Fragment Length
• RNA Splicing
• Severity of Illness Index