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Article

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

Genomics - 1 May 1993

Mitchison H M, Thompson A D, Mulley J C, Kozman H M, Richards R I, Callen D F, Stallings R L, Doggett N A, Attwood J, McKay T R

Abstract excerpt

Batten disease, juvenile onset neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder characterized by accumulation of autofluorescent lipopigment in neurons and other cell types. The disease locus (CLN3) has previously been assigned to chromosome 16p. The genetic localization of CLN3 has been refined by analyzing 70 families using a high-resolution map of 15 marker loci encompassing...

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Identifiers

PMID: 8314582
DOI: 10.1006/geno.1993.1210

Genes

CLN3

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.PMID 8314582Read ↗

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

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

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

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

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

Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.Semantic proximity Read ↗

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

Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathwaysSemantic proximity Read ↗

Biosynthesis and Intracellular Targeting of the CLN3 Protein Defective in Batten DiseaseSemantic proximity Read ↗

Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.Semantic proximity Read ↗

Batten disease: evaluation of CLN3 mutations on protein localization and functionSemantic proximity Read ↗

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