Article
[A study evaluating the correlation between the phenotype and genotype among 65 cystic fibrosis patients].
Pediatria polska - 1 Aug 1995
Nowakowska A, Bal J, Obersztyn E, Sands D, Maciejko D, Mazurczak T
Abstract excerpt
Among 65 CF diagnosed patients with both CFTR gene mutations known genotype-phenotype studies were performed. Correlation between pancreatic insufficiency and so called "severe mutations" was found. Respiratory tract symptoms do not seem to depend on one specific mutation as well as meconium ileu...
Topics
- Adolescent
- Child
- Child, Preschool
- Chlorides
- Cystic Fibrosis
- Exocrine Pancreatic Insufficiency
- Female
- Genotype
- Humans
- Infant
- Intestinal Obstruction
- Male
- Mutation
- Phenotype
- Pseudomonas Infections
- Respiratory Tract Infections
- Sweat