Clinical relevance of defects in signalling pathways.
Journal Article (Journal Article;Review)
This review discusses seven diseases of the human nervous system that have been linked to defects in signal transduction. Recent molecular genetic analyses of rare monogenic disorders have led to the identification of mutant genes in six of the seven diseases. The molecules implicated are an enzyme (superoxide dismutase) and ion channels gated by either voltage or ligands.
Full Text
Duke Authors
Cited Authors
- Kraus, JE; McNamara, JO
Published Date
- June 1995
Published In
Volume / Issue
- 5 / 3
Start / End Page
- 358 - 366
PubMed ID
- 7580159
International Standard Serial Number (ISSN)
- 0959-4388
Digital Object Identifier (DOI)
- 10.1016/0959-4388(95)80049-2
Language
- eng
Conference Location
- England