title: Novel human pathological mutations. Gene symbol: CFTR. Disease: cystic fibrosis.
authors.affiliation: American University of Beirut Medical Center, Pediatrics, Pediatric Departement, AUBMC, POBOX113-6044, 0236, Beirut, Lebanon. cfarra@hotmail.com
authors.forename: Chantal
authors.initials: C
authors.lastname: Farra
authors.forename: Rita
authors.initials: R
authors.lastname: Medawar
authors.forename: Faiza
authors.initials: F
authors.lastname: Cabet
authors.forename: Salman
authors.initials: S
authors.lastname: Mroueh
authors.forename: Myrna
authors.initials: M
authors.lastname: Souaid
authors.forename: Hala
authors.initials: H
authors.lastname: Hourani
authors.forename: Carla
authors.initials: C
authors.lastname: Mounsef
authors.forename: Hanine
authors.initials: H
authors.lastname: Ashkar
authors.forename: Johnny
authors.initials: J
authors.lastname: Awwad
mesh_terms: D018912:Arabs / Q000235:genetics; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D016254:Mutagenesis, Insertional
chemical_list: C505032:CFTR protein, human; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA