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[Why do mutations cause disease--a protein chemical perspective].

Authors
  • Kleppe, R
  • Knappskog, P M
  • Haavik, J
Type
Published Article
Journal
Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række
Publication Date
Sep 30, 2001
Volume
121
Issue
23
Pages
2717–2720
Identifiers
PMID: 11699380
Source
Medline
License
Unknown

Abstract

We argue that studies of the kinetic and thermodynamic stability of proteins are important in order to understand the effects of many mutations, and we describe such studies. Knowledge about native, denatured and aggregated forms of proteins is essential to the understanding of how mutations can affect protein stability. We conclude that much of our knowledge in this area is still rudimentary, but we expect that this field of research will evolve rapidly over the next few years.

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