A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
Petreska
L
L
Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.
Plaseska
D
D
Koceva
S
S
Stavljenić-Rukavina
A
A
Efremov
G D
GD
D002675:Child, Preschool; D017523:Croatia; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator