Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay‐Sachs disease

ÖZKARA H. A., Akerman B., Ciliv G., TOPÇU M., Renda Y., Gravel R.

Human Mutation, vol.5, no.2, pp.186-187, 1995 (Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 5 Issue: 2
  • Publication Date: 1995
  • Doi Number: 10.1002/humu.1380050216
  • Journal Name: Human Mutation
  • Journal Indexes: Scopus
  • Page Numbers: pp.186-187
  • Hacettepe University Affiliated: Yes