title: Delta F 508 molecular mutation in Indian children with cystic fibrosis.
abstract: A preliminary report of 13 Indian children with cystic fibrosis who were screened for the commonest mutation (delta F 508) is presented. Six (46%) patients were homozygous for delta F 508, while two patients were compound heterozygotes. Thus 14 (53.8%) of 26 mutant chromosomes had delta F 508 mutation. These findings confirm that cystic fibrosis occurs in India and all children with persistent respiratory problems and/or malabsorption should be screened for this disease.
authors.affiliation: Department of Paediatrics, All India Institute of Medical Sciences, New Delhi.
authors.forename: M
authors.initials: M
authors.lastname: Kabra
authors.forename: M
authors.initials: M
authors.lastname: Ghosh
authors.forename: S K
authors.initials: SK
authors.lastname: Kabra
authors.forename: A
authors.initials: A
authors.lastname: Khanna
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D017354:Point Mutation