Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya

Hum Mutat. 1996;8(4):366-8. doi: 10.1002/(SICI)1098-1004(1996)8:4<366::AID-HUMU11>3.0.CO;2-0.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Codon / genetics
  • DNA Primers
  • Elliptocytosis, Hereditary / blood
  • Elliptocytosis, Hereditary / genetics*
  • Erythrocytes / ultrastructure
  • Exons
  • Genetic Variation
  • Humans
  • Male
  • Paternity
  • Point Mutation*
  • Polymerase Chain Reaction
  • Spectrin / genetics*

Substances

  • Codon
  • DNA Primers
  • Spectrin