Rapid detection of 1717-1G----A mutation in CFTR gene by PCR-mediated site-directed mutagenesis.
Cremonesi
L
L
Istituto Scientifico H.S. Raffaele, Lab. Centrale, Milano, Italy.
Seia
M
M
Magnani
C
C
Ferrari
M
M
D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator