Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific alleles.
Maciel
P
P
City of Hope National Medical Center/Beckman Research Institute, Duarte, CA, USA.
Yan
J
J
Feng
J
J
Accurso
F
F
Sommer
S
S
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D017353:Gene Deletion; D020869:Gene Expression Profiling / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D016415:Sequence Alignment / Q000379:methods
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator