May a missense mutation be more deleterious than a truncating mutation?

IUBMB Life. 2008 Jan;60(1):79-81. doi: 10.1002/iub.2.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia Mutated Proteins
  • Base Sequence
  • Cell Cycle Proteins / genetics
  • DNA-Binding Proteins / genetics
  • Humans
  • Mutation, Missense / physiology*
  • Nijmegen Breakage Syndrome / genetics
  • Nuclear Proteins / genetics
  • Protein Serine-Threonine Kinases / genetics
  • Sequence Deletion*
  • Tumor Suppressor Proteins / genetics

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • NBN protein, human
  • Nuclear Proteins
  • Tumor Suppressor Proteins
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Protein Serine-Threonine Kinases