Article
[Abnormality of PMP-22 gene in Japanese patients with Charcot-Marie-Tooth disease--comparison between Southern blot and polymerase chain reaction analysis in the detection of PMP-22 gene duplication].
No to shinkei = Brain and nerve - 1 Jul 1995
Yamamoto M, Sobue G, Kumazawa K, Doyu M, Mitsuma T, Hayasaka K
Abstract excerpt
We investigated the duplication of the PMP-22 gene in 23 Japanese patients with Charcot-Marie-Tooth disease (CMT) by Southern blot and PCR analysis. To detect duplication of the PMP-22 gene region, PMP-22 cDNA and a polymorphic marker, VAW409R3, located in the region flanking the PMP-22 gene, wer...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Blotting, Southern
- Charcot-Marie-Tooth Disease
- Child
- Female
- Humans
- Japan
- Male
- Middle Aged
- Molecular Sequence Data
- Multigene Family
- Mutation
- Myelin Proteins
- Polymerase Chain Reaction