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Article

Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.

Genomics - 15 Jul 1994

Mitchison H M, Taschner P E, O'Rawe A M, de Vos N, Phillips H A, Thompson A D, Kozman H M, Haines J L, Schlumpf K, D'Arigo K

Abstract excerpt

CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten disease, has been localized by genetic linkage analysis to chromosome 16p between loci D16S297 and D16S57. We have now further refined the localization of CLN3 by haplotype analysis using two new microsatellite markers from loci D16S383 and SPN in the D16S297-D16S57 interval on a larger collaborative family resource consisting of...

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Source

Identifiers

PMID: 7806237
DOI: 10.1006/geno.1994.1412

Genes

CLN3
SPN

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

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Research trail→

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Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.PMID 7806237Read ↗

Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.Semantic proximity Read ↗

Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits.Semantic proximity Read ↗

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.Semantic proximity Read ↗

Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).Semantic proximity Read ↗

Physical map of the region containing the gene for Batten disease (CLN3).Semantic proximity Read ↗

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).Semantic proximity Read ↗

Spectrum of mutations in the Batten disease gene, CLN3.Semantic proximity Read ↗

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Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.Semantic proximity Read ↗

Cln3 Deltaex7/8 knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birthSemantic proximity Read ↗

A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.Semantic proximity Read ↗

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