A donor splice site mutation (1811 + 1G-->C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin.
Petreska
L
L
Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.
Koceva
S
S
Efremov
G D
GD
D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007438:Introns; D009154:Mutation; D012326:RNA Splicing; D015022:Yugoslavia
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator