Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis

FASEB J. 1992 Jul;6(10):2864-6. doi: 10.1096/fasebj.6.10.1353040.

Abstract

Transthyretin-related hereditary (TTR) amyloidoses represent a clinically heterogeneous group of diseases associated with various point mutations of the TTR gene. We propose a molecular strategy for the diagnosis of this group of disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloidosis / diagnosis*
  • Amyloidosis / genetics*
  • Base Sequence
  • Cloning, Molecular
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Oligonucleotide Probes / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Prealbumin / genetics*

Substances

  • Oligonucleotide Probes
  • Prealbumin

Grants and funding