Transthyretin Glu18, A New Variant Associated With Familial Amyloid Polyneuropathy

Authors

  • Tan Si Yen
  • Philip N Hawkins
  • Mark B Pepys

Abstract

Familial amyloid polyneuropathy is most commonly associated with variant plasma transthyretin (TTR) although it has been described in association with variant apolipoprotein AI and gelsolin. More than 40 TTR variants, all consisting of single amino acid substitutions distributed widely along the length of the 127 residue TTR subunit have now been described. We report here a novel TTR variant, Glu18, in a Colombian woman with TTR amyloidosis.

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Published

1998-12-28

Issue

Vol. 3 No. 1&2 (1998)

Section

Research article

License

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