A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian origin

Hum Mutat. 1992;1(2):169-71. doi: 10.1002/humu.1380010215.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • Codon
  • DNA / genetics
  • DNA / isolation & purification
  • Female
  • Globins / genetics*
  • Humans
  • Italy / ethnology
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • RNA Caps / genetics
  • Thalassemia / genetics*

Substances

  • Codon
  • RNA Caps
  • Globins
  • DNA