Article
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.
Human mutation - 1 Jan 1993
Gasparini P, Marigo C, Bisceglia G, Nicolis E, Zelante L, Bombieri C, Borgo G, Pignatti P F, Cabrini G
Abstract excerpt
The frequency of 62 different CFTR mutations in 225 chromosomes from a CF birth cohort, which includes all the affected subjects born in northeast Italy during a 10-year period of time, was investigated. New mutations were also searched by the analysis of 15 different exons. The total proportion of CF chromosomes with detectable mutations is 73.78%. Therefore although a considerable improvement in CF mutation...
Topics
- Adolescent
- Cohort Studies
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Gene Frequency
- Genetic Testing
- Genotype
- Humans
- Incidence