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Article

Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.

Human genetics - 1 May 1992

Jacobson D R, McFarlin D E, Kane I, Buxbaum J N

Abstract excerpt

Mutations in the protein transthyretin cause amyloidosis involving the heart, peripheral nerves, and other organs. A family from West Virginia developed an unusually aggressive form of widespread transthyretin amyloidosis. Single-strand conformation polymorphism analysis revealed a variant in the transthyretin gene, which was found on sequencing to be a T----C transversion at position 2 of codon 55, corresponding...

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PMID: 1351039
DOI: 10.1007/BF00220559

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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