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Article

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

American journal of human genetics - 1 Mar 1996

Varilo T, Savukoski M, Norio R, Santavuori P, Peltonen L, Järvelä I

Abstract excerpt

Variant late infantile neuronal ceroid lipofuscinosis (vLINCL) is an autosomal recessive progressive encephalopathy of childhood enriched in the western part of Finland, with a local incidence of 1 in 1500. We recently assigned the locus for vLINCL, CLN5, to 13q21.1-q32. In the present study, the...

Topics

Chromosomes, Human, Pair 13
Female
Finland
Founder Effect
Gene Frequency
Haplotypes
Humans
Linkage Disequilibrium
Male
Microsatellite Repeats
Mutation
Neuronal Ceroid-Lipofuscinoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed Open full text

Identifiers

PMID: 8644710
PMCID: PMC1914587

Genes

CLN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8644710-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.PMID 8644710Read ↗

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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