Article
Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model.
Molecular and cellular probes - 1 Jun 1995
Giannattasio S, Bisceglia L, Lattanzio P, Grifa A, Dianzani I, Gasparini P, Marra E
Abstract excerpt
RNA single-strand conformation polymorphism (rSSCP) is a recently developed method for detecting genetic defects. This technique requires DNA amplification with a polymerase chain reaction making use of one T7 promoter-containing primer. Amplification products are subsequently transcribed in vitr...
Topics
- Base Sequence
- Cystinuria
- DNA, Complementary
- Exons
- Genetic Testing
- Humans
- Italy
- Molecular Sequence Data
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymorphism, Single-Stranded Conformational
- RNA
