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


  • eng

Conference Location

  • England