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Article

Familial amyloid polyneuropathy in Korea: the first case report with a proven ATTR Lys35Asn gene.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Mar 2005

Ryu Jin Kyung, Baik Hyun Wook, Bae Jin Soo, Hwang Tae Jun, Paik So Ya, Yu Hyun Jeung, Choi Byung Ok, Takei Yo-Ichi, Ikeda Shu-Ichi

Abstract excerpt

A 39-year-old man with progressive peripheral neuropathy and autonomic failure showed amyloid deposition on sural nerve biopsy. Direct DNA sequencing of the TTR gene revealed a G to T mutation, causing a Lys to Asn substitution at position 35. This is the first FAP case in Korea which was diagnosed by a DNA test.

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Source

Identifiers

PMID: 16076613
DOI: 10.1080/13506120500032790

Genes

FAP
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.

Related research

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