title: First report of cystic fibrosis mutations in Libyan cystic fibrosis patients.
abstract: BACKGROUND
  There are few data on the molecular basis of Cystic Fibrosis (CF) in North Africa, probably due to under-diagnosis.
  
  
  OBJECTIVE
  This is the first study of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in the Libyan population.
  
  
  METHODS
  This study analysed the complete coding region and flanking intronic sequences of the CFTR gene in 10 unrelated Libyan CF patients.
  
  
  RESULTS
  This study identified four mutations (F508del, c.1670delC, N1303K and E1104X), with a high frequency of the latter.
  
  
  CONCLUSIONS
  Identification of CF mutations facilitates molecular investigation of cystic fibrosis in the Libyan population and helps to provide effective genetic counselling among CF families.
authors.affiliation: Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital d'Enfants de Tunis, Bab Saadoun 1029, Tunis, Tunisie.
authors.forename: Sondess
authors.initials: S
authors.lastname: Hadj Fredj
authors.forename: Slaheddine
authors.initials: S
authors.lastname: Fattoum
authors.forename: Abdelraouf
authors.initials: A
authors.lastname: Chabchoub
authors.forename: Taieb
authors.initials: T
authors.lastname: Messaoud
mesh_terms: D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008002:Libya; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator