Article
[Molecular genetic analysis of neurologic diseases].
Human cell - 1 Dec 1990
Tsuji S, Tanno Y, Yoneda M
Abstract excerpt
With the recent progress in molecular genetics, our understanding of neurologic diseases on molecular basis has improved tremendously. Molecular analyses of gene mutations in hereditary neurologic diseases bring us not only the identification of mutations but also better understanding of molecular mechanisms involved in the neurologic diseases. We have identified a missense mutation (444Leu----Pro) in...
Topics
- Amino Acid Sequence
- Base Sequence
- Epilepsies, Myoclonic
- Gaucher Disease
- Glucosylceramidase
- Homozygote
- Humans
- Leucine
- Molecular Sequence Data
- Mutation
- Proline
- RNA