Article
Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient.
Human mutation - 1 Jan 1996
Duarte A, Amaral M, Barreto C, Pacheco P, Lavinha J
Abstract excerpt
CFTR alleles containing two mutations have been very rarely found in cystic fibrosis (CF) patients. They provide an opportunity to study the effect of two in cis-interacting gene defects on gene expression. Here, we describe a three-generation CF family with a complex CFTR allele that has not bee...
Topics
- Alleles
- Alternative Splicing
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Haplotypes
- Humans
- Male
- Mutation
- Pancreas
- Pedigree