Article
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.
Human genetics - 1 Sept 1995
Brancolini V, Cremonesi L, Belloni E, Pappalardo E, Bordoni R, Seia M, Russo S, Padoan R, Giunta A, Ferrari M
Abstract excerpt
A cohort of 31 cystic fibrosis patients showing pancreatic sufficiency and bearing an unidentified mutation on at least one chromosome was analyzed through denaturing gradient gel electrophoresis of the whole coding region of the cystic fibrosis transmembrane conductance regulator gene, including...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- Chromosome Mapping
- Cohort Studies
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Primers
- DNA, Satellite
- Electrophoresis, Polyacrylamide Gel
- Female
- Genetic Testing