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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, 1041-1042 p.Article 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, 1041-1042 p.
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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: 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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