Five novel genetic variants in the promoter and coding region of the alpha B-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L

Hum Mutat. 2000 Oct;16(4):374. doi: 10.1002/1098-1004(200010)16:4<374::AID-HUMU17>3.0.CO;2-Z.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • Crystallins / genetics*
  • Exons*
  • Genetic Variation / genetics*
  • Humans
  • Leucine / genetics
  • Mutation, Missense / genetics
  • Polymorphism, Genetic / genetics
  • Proline / genetics
  • Promoter Regions, Genetic / genetics*
  • Serine / genetics
  • Tyrosine / genetics

Substances

  • Crystallins
  • Tyrosine
  • Serine
  • Proline
  • Leucine