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Article

Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2002

Yazaki Masahide, Connors Lawreen H, Eagle Ralph C, Leff Steven R, Skinner Martha, Benson Merrill D

Abstract excerpt

We report a 45-year-old woman with a new transthyretin (TTR) variant, substitution of leucine for tryptophan at residue 41, who has showed vitreous opacities without any other visceral organ involvement since age of 42. Congo red staining of vitrectomy specimens revealed that the vitreous fluid contained amyloid fibrils, which were strongly positive for immunohistochemical staining using anti-human TTR antiserum....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12557756
DOI: 10.3109/13506120209114104

Genes

TTR

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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