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Träfflista för sökning "(L773:0022 2593 OR L773:1468 6244) srt2:(1995-1999) srt2:(1996)"

Search: (L773:0022 2593 OR L773:1468 6244) srt2:(1995-1999) > (1996)

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  • Järvelä, I, et al. (author)
  • Rapid diagnostic test for the major mutation underlying Batten disease
  • 1996
  • In: Journal of Medical Genetics. - 0022-2593 .- 1468-6244. ; 33:12, s. 1041-1042
  • Journal article (peer-reviewed)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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