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Article

Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.

Journal of medical genetics - 1 Nov 1997

Taschner P E, de Vos N, Breuning M H

Abstract excerpt

The recent isolation of the CLN3 gene involved in Batten disease (juvenile neuronal ceroid lipofuscinosis) creates possibilities for direct detection of mutations which can confirm or indicate the clinical diagnosis of Batten disease. We have designed a rapid and reliable allele specific PCR test for the detection of the major deletion, which can be used in carrier diagnosis, presymptomatic diagnosis, and...

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Identifiers

PMID: 9391897
DOI: 10.1136/jmg.34.11.955
PMCID: PMC1051131

Genes

CLN3

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.PMID 9391897Read ↗

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

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

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

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

Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.Semantic proximity Read ↗

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected].Semantic proximity Read ↗

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

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.Semantic proximity Read ↗

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 ↗

Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)Semantic proximity Read ↗

Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).Semantic proximity Read ↗

BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.Semantic proximity Read ↗

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