Article
Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.
Journal of medical genetics - 1 Jul 1998
Nelis E, De Jonghe P, De Vriendt E, Patel P I, Martin J J, Van Broeckhoven C
Abstract excerpt
We analysed the nerve specific promoter of the peripheral myelin protein 22 gene (PMP22) in a set of 15 unrelated patients with Charcot-Marie-Tooth type 1 disease (CMT1) and 16 unrelated patients with hereditary neuropathy with liability to pressure palsies (HNPP). In these patients no duplicatio...
Topics
- Base Sequence
- Charcot-Marie-Tooth Disease
- DNA Mutational Analysis
- DNA Primers
- Exons
- Female
- Hereditary Sensory and Motor Neuropathy
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myelin Proteins
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Promoter Regions, Genetic