A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier

Hum Mutat. 1994;3(3):309-11. doi: 10.1002/humu.1380030322.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Codon / genetics
  • DNA Primers
  • Frameshift Mutation*
  • Genetic Carrier Screening*
  • Globins / genetics*
  • Humans
  • Italy
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Restriction Mapping
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • DNA Primers
  • Globins