Detection of NF1 mutations utilizing the protein truncation test (PTT).
Upadhyaya
Meena
M
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
Osborn
Michael
M
Cooper
David N
DN
D001483:Base Sequence; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D005821:Genetic Techniques; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D014176:Protein Biosynthesis; D012194:RNA-Directed DNA Polymerase; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic
D017931:DNA Primers; D025542:Neurofibromin 1; D004247:DNA; D012194:RNA-Directed DNA Polymerase