The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.

Abstract excerpt

Few mutations in cis have been annotated for F508del homozygous patients. Southern Italy patients who at a first analysis appeared homozygous for the F508del mutation (n=63) or compound heterozygous for the F508del and another mutation in the cystic fibrosis transmembrane conductance regulator gene (n=155) were searched for the A238V mutation in exon 6. The allelic frequency of the complex allele [A238V;F508del]...

Topics

• Alleles
• Amino Acid Substitution
• Bacterial Infections
• Biomarkers
• C-Reactive Protein
• Child
• Child, Preschool
• Chlorides
• Codon
• Cystic Fibrosis