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Article

Cardiac amyloidosis associated with a novel transthyretin aspartic acid-18 glutamic acid de novo mutation.

Circulation journal : official journal of the Japanese Circulation Society - 1 Nov 2003

Imamura Takuroh, Nakazato Masamitsu, Date Yukari, Komatsu Hiroyuki, Ashizuka Shinya, Aoyama Fumiyo, Sumi Motoko, Tsuruda Toshihiro, Ishikawa Tetsunori, Hirayama Naoteru, Matsuo Takeshi, Eto Tanenao

Abstract excerpt

A 40-year-old man presented with initial symptoms of syncope caused by restrictive cardiomyopathy and autonomic nervous system impairment, but it was confirmed that he had a novel transthyretin (TTR) variant, aspartic acid-18 glutamic acid (Glu), and a de novo gene mutation. A polymerase chain reaction-induced mutation restriction analysis with a mismatched sense primer demonstrated that he was heterozygous for...

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Source

Identifiers

PMID: 14578606
DOI: 10.1253/circj.67.965

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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