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Article

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

American journal of human genetics - 1 Sept 1991

Hiltunen T, Kiuru S, Hongell V, Heliö T, Palo J, Peltonen L

Abstract excerpt

Familial amyloidosis of Finnish type (FAF) is one of the familial amyloidotic polyneuropathy (FAP) syndromes, a group of inherited disorders characterized by extracellular accumulation of amyloid and by clinical symptoms and signs of polyneuropathy. FAF, an autosomal dominant trait, belongs to th...

Topics

Amyloidosis
Aspartic Acid
Base Sequence
Calcium-Binding Proteins
DNA, Single-Stranded
Female
Finland
Gelsolin
Genes, Dominant
Humans
Male
Microfilament Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Prealbumin

Source

Open in PubMed Open full text

Identifiers

PMID: 1652889
PMCID: PMC1683143

Genes

FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1652889-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.PMID 1652889Read ↗

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 ↗

Mutation in gelsolin gene in Finnish hereditary amyloidosis.Semantic proximity Read ↗

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

Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type)Semantic proximity Read ↗

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

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

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

Hereditary amyloidosis of the Finnish type in a German family: clinical and electrophysiological presentation.Semantic proximity Read ↗

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