Novel human pathological mutations. Gene symbol: CFTR. Disease: cystic fibrosis.
Farra
Chantal
C
American University of Beirut Medical Center, Pediatrics, Pediatric Departement, AUBMC, POBOX113-6044, 0236, Beirut, Lebanon. cfarra@hotmail.com
Medawar
Rita
R
Cabet
Faiza
F
Mroueh
Salman
S
Souaid
Myrna
M
Hourani
Hala
H
Mounsef
Carla
C
Ashkar
Hanine
H
Awwad
Johnny
J
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
C505032:CFTR protein, human; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA