Rapid diagnostic test for the major mutation underlying Batten disease.

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 res...

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Detaylı Bibliyografya
Asıl Yazarlar: Järvelä, I, Mitchison, H M, Munroe, P B, O'Rawe, A M, Mole, S E, Syvänen, A C
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1996
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050819/
https://ncbi.nlm.nih.gov/pubmed/9004140
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