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Rapid diagnostic test for the major mutation underlying Batten disease.
  1. I Järvelä,
  2. H M Mitchison,
  3. P B Munroe,
  4. A M O'Rawe,
  5. S E Mole,
  6. A C Syvänen
  1. National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland.

    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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