Article
Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.
Human genetics - 1 Mar 1995
Estivill X, Ortigosa L, Pérez-Frias J, Dapena J, Ferrer J, Peña L, Peña L, Llevadot R, Giménez J, Nunes V
Abstract excerpt
We present the genotype/phenotype correlation analysis for 16 cystic fibrosis (CF) patients who carry mutation R334W. Current age and age of diagnosis was significantly higher in the R334W/any-mutation group (P < 0.05 and P < 0.01), compared with the delta F508/delta F508 group. A slightly, but n...
Topics
- Age of Onset
- Arginine
- Child
- Child, Preschool
- Cystic Fibrosis
- Exocrine Pancreatic Insufficiency
- Female
- Forced Expiratory Volume
- Genotype
- Humans
- Intestinal Obstruction