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Rapid diagnostic test for the major mutation underlying Batten disease
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1996 (English)In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 33, no 12, p. 1041-1042Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
1996. Vol. 33, no 12, p. 1041-1042
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-169817PubMedID: 9004140OAI: oai:DiVA.org:uu-169817DiVA, id: diva2:507791
Available from: 2012-03-06 Created: 2012-03-06 Last updated: 2017-12-07Bibliographically approved

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Syvänen, Ann-Christine

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