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Article

Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay.

American journal of medical genetics - 1 Feb 1992

Haltia M, Levy E, Meretoja J, Fernandez-Madrid I, Koivunen O, Frangione B

Abstract excerpt

Familial amyloidosis, Finnish (FAF), is an autosomal dominant form of systemic amyloidosis with lattice corneal dystrophy and progressive cranial neuropathy as principal clinical manifestations. We have shown that the novel amyloid fibril protein found in these patients is an internal degradation fragment of gelsolin, an actin-binding protein, and that it contains an amino acid substitution, asparagine for...

Topics

Amyloidosis
Calcium-Binding Proteins
Codon
DNA Mutational Analysis
Finland
Gelsolin
Humans
Microfilament Proteins
Mutation
Nucleic Acid Hybridization
Oligonucleotide Probes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1311149
DOI: 10.1002/ajmg.1320420321

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1311149-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay.PMID 1311149Read ↗

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