Discover Community Create You

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

Article

Mutation in gelsolin gene in Finnish hereditary amyloidosis.

The Journal of experimental medicine - 1 Dec 1990

Levy E, Haltia M, Fernandez-Madrid I, Koivunen O, Ghiso J, Prelli F, Frangione B

Abstract excerpt

Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of familial amyloid polyneuropathy. The novel amyloid fibril protein found in these patients is a degradation fragment of gelsolin, an actin-binding protein. We found a mutation (adenine for guanine) at nucleotide 654 of the gelsolin gene in genomic DNA isolated from five FAF patients. This site is polymorphic since the normal allele was also...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Base Sequence
Share to DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Sequence Data

Share to Mutation

Share to Oligonucleotide Probes

Share to Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 2175344
DOI: 10.1084/jem.172.6.1865
PMCID: PMC2188742

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in gelsolin gene in Finnish hereditary amyloidosis.PMID 2175344Read ↗

Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.Semantic proximity Read ↗

Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.Semantic proximity Read ↗

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.Semantic proximity Read ↗

Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.Semantic proximity Read ↗

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

Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.Semantic proximity Read ↗

Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.Semantic proximity Read ↗

[Finnish hereditary amyloidosis: a mutation in the gelsolin gene].Semantic proximity Read ↗

Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide.Semantic proximity Read ↗

Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.Semantic proximity Read ↗

Fibrillogenesis in gelsolin-related familial amyloidosis.Semantic proximity Read ↗

Identification of the circulating amyloid precursor and other gelsolin metabolites in patients with G654A mutation in the gelsolin gene (Finnish familial amyloidosis): pathogenetic and diagnostic implications.Semantic proximity Read ↗

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