Article
Genetic analysis of cystic fibrosis in Pakistan: a preliminary report.
JPMA. The Journal of the Pakistan Medical Association - 1 Jul 2000
Bhutta Z A, Moattar T, Shah U
Abstract excerpt
OBJECTIVE: Evaluation of the incidence of common delta F508 mutation in a cohort of Pakistani children with Cystic Fibrosis (CF). METHODOLOGY: The presence of the CFTR gene mutation at position 508 (delta F508) was evaluated in 15 consecutively presenting children with CF, proven by clinical features and an unequivocally positive sweat chloride test. The DNA from mononuclear cells was extracted and the delta F508...
Topics
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Humans
- Infant
- Mutation
- Pakistan