Novel frameshift mutation in exon 4 of CFTR gene.
Ivaschenko
T
T
All-Russia Center for Prenatal Diagnosis of CF, Institute of Obstetrics and Gynecology, St. Petersburg.
Bakay
M
M
Baranov
V
V
D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D016368:Frameshift Mutation; D005809:Genes, Regulator / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction; D012426:Russia
C505032:CFTR protein, human; D008565:Membrane Proteins; D009692:Nucleic Acid Heteroduplexes; D019005:Cystic Fibrosis Transmembrane Conductance Regulator