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Article

Transthyretin Leu 68 in a form of cardiac amyloidosis.

Basic research in cardiology - 1 Jan 2000

Almeida M R, Hesse A, Steinmetz A, Maisch B, Altland K, Linke R P, Gawinowicz M A, Saraiva M J

Abstract excerpt

A form of transthyretin (TTR)-related cardiac amyloidosis was previously described in a German patient. Electrophoretic analysis of plasma TTR showed the presence of an electrically neutral variant. We have now characterized the variant transthyretin by comparative peptide mapping, aminoacid and DNA sequencing procedures. A new mutation in TTR with a substitution of leucine for isoleucine at position 68 of the...

Topics

Amino Acid Sequence
Amyloidosis
Cardiomyopathies
DNA Probes
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Peptide Mapping
Prealbumin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1786038
DOI: 10.1007/BF02190707

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1786038-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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