Article
Genotype-phenotype correlations in cystic fibrosis patients.
Advances in experimental medicine and biology - 1 Jan 1991
Stuhrmann M, Dörk T, Krawczak M, Dueck M, Banholzer U, Domagk J, Hoffknecht N, Posselt H G, Reis A, Schlösser M
Abstract excerpt
Genetic and biomedical data from 346 cystic fibrosis patients of German origin have been evaluated. We demonstrated an age dependent distribution of CFTR genotypes, and confirmed the previously reported association between the dF508 mutation in the CFTR gene and pancreatic insufficiency. However 3 out of 22 pancreatic sufficient patients were dF508 homozygous. When patients were grouped with respect to height...
Topics
- Adolescent
- Adult
- Age Factors
- Alleles
- Child
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exocrine Pancreatic Insufficiency
- Female
- Genetic Markers
- Genotype