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Rapid diagnostic te...
Rapid diagnostic test for the major mutation underlying Batten disease
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Järvelä, I (författare)
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Mitchison, H M (författare)
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Munroe, P B (författare)
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visa fler...
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O'Rawe, A M (författare)
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Mole, S E (författare)
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Syvänen, Ann-Christine (författare)
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visa färre...
- 1996
- 1996
- Engelska.
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Ingår i: Journal of Medical Genetics. - 0022-2593 .- 1468-6244. ; 33:12, s. 1041-1042
- Relaterad länk:
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https://urn.kb.se/re...
Abstract
Ämnesord
Stäng
- 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.
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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