title: Application of the protein truncation test (PTT) for the detection of tuberculosis sclerosis complex type 1 and 2 (TSC1 and TSC2) mutations.
authors.affiliation: Laboratory for Medical Genetics, Martinsried, Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Mayer
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D002899:Chromosomes, Human, Pair 9; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D005091:Exons; D016147:Genes, Tumor Suppressor; D005821:Genetic Techniques; D006801:Humans; D007202:Indicators and Reagents; D009154:Mutation; D014176:Protein Biosynthesis; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D017931:DNA Primers; D007202:Indicators and Reagents; D011506:Proteins; D012097:Repressor Proteins; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D004247:DNA