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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1996 Dec;33(12):1041–1042. doi: 10.1136/jmg.33.12.1041

Rapid diagnostic test for the major mutation underlying Batten disease.

I Järvelä 1, H M Mitchison 1, P B Munroe 1, A M O'Rawe 1, S E Mole 1, A C Syvänen 1
PMCID: PMC1050819  PMID: 9004140

Abstract

Batten disease is the most common progressive neurodegenerative disorder of childhood in western countries. A novel cDNA responsible for Batten disease has recently been identified. We have developed a rapid diagnostic solid phase minisequencing test to detect the major 1.02 kb deletion which is responsible for 81% of affected chromosomes in Batten disease worldwide. In Finland, 90% of Batten chromosomes carry the major deletion owing to the enrichment of the CLN3 gene in the isolated Finnish population.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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