Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis

Hum Mutat. 1994;3(4):399-401. doi: 10.1002/humu.1380030414.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amyloid Neuropathies / genetics
  • Amyloidosis / genetics*
  • Base Sequence
  • Cardiomyopathies / genetics
  • DNA Mutational Analysis
  • Humans
  • Isoleucine / genetics
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Prealbumin / genetics*
  • Valine / genetics*

Substances

  • Prealbumin
  • Isoleucine
  • Valine