Article
A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families.
Clinical genetics - 1 Jul 1993
Witt M, Jaruzelska J, Kuczora I, Matuszak R, Cichy W, Borski K
Abstract excerpt
Genomic DNA was isolated from dried blood specimens and subsequently used as a template in simplified PCR-based detection assays of delta F508 mutation of CFTR gene and of R408W mutation of PAH gene in families with cystic fibrosis and phenylketonuria, respectively. Products of amplification of C...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- DNA Primers
- Electrophoresis, Agar Gel
- Electrophoresis, Polyacrylamide Gel
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Phenylalanine Hydroxylase