A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers.

doi:10.1016/0002-9343(92)90672-x

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers.

The American journal of medicine - 1 Jul 1992

Ranløv I, Alves I L, Ranløv P J, Husby G, Costa P P, Saraiva M J

Abstract excerpt

PURPOSE: In familial amyloid cardiomyopathy of Danish origin, the amyloid microfibrils contain a mutant transthyretin (TTR) with a methionine-for-leucine substitution at the molecular position 111. We studied the possible occurrence of this variant TTR-Met111 in serum from afflicted as well as nonafflicted family members and their offspring, in order to define its possible role as predictor of the disease and to...

Topics

Adult
Aged
Aged, 80 and over
Amyloidosis
Cardiomyopathies
Denmark
Electrophoresis, Polyacrylamide Gel
Female
Heterozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Methionine

Middle Aged

Mutation

Pedigree

Peptide Fragments

Prealbumin

Sodium Dodecyl Sulfate

Source

Open in PubMed

Identifiers

PMID: 1626570
DOI: 10.1016/0002-9343(92)90672-x

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1626570-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers.PMID 1626570Read ↗

A clinical, echocardiographic and genetic characterization of a Danish kindred with familial amyloid transthyretin methionine 111 linked cardiomyopathy.Semantic proximity Read ↗

[Hereditary amyloid cardiomyopathy related to a mutation at transthyretin protein number 111. A clinical, genetic and echocardiographic study of an affected Danish family].Semantic proximity Read ↗

Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin.Semantic proximity Read ↗

Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.Semantic proximity Read ↗

Biochemical and clinical characterization of prealbuminCHICAGO: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis.Semantic proximity Read ↗

Amyloid Cardiomyopathy.Semantic proximity Read ↗

Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.Semantic proximity Read ↗

Biochemical and biophysical properties of a rare TTRA81V mutation causing mild transthyretin amyloid cardiomyopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.