A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis

Hum Mutat. 1994;4(1):61-4. doi: 10.1002/humu.1380040110.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amyloidosis / genetics*
  • Base Sequence
  • Cardiomyopathies / genetics
  • DNA / genetics
  • Exons / genetics
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Nervous System Diseases / genetics
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Prealbumin / genetics*

Substances

  • Prealbumin
  • DNA

Grants and funding