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- Järvelä, I, et al.
(författare)
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Rapid diagnostic test for the major mutation underlying Batten disease
- 1996
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Ingår i: Journal of Medical Genetics. - 0022-2593 .- 1468-6244. ; 33:12, s. 1041-1042
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Tidskriftsartikel (refereegranskat)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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