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- P B Munroe, A M O'Rawe, H M Mitchison, I E Järvelä, P Santavuori, T J Lerner, P E Taschner, R M Gardiner, and S E Mole.
- Department of Paediatrics, University College London Medical School, Rayne Institute, UK.
- Neuropediatrics. 1997 Feb 1; 28 (1): 15-7.
AbstractA strategy for detection of mutations in CLN3, the gene for Batten disease or juvenile onset neuronal ceroid lipofuscinosis, has been devised using a technique which detects conformation polymorphisms and direct sequencing of genomic DNA fragments. We define two mutations found uniquely in Finnish patients, one a large deletion (2.8 kb), the other a point mutation affecting the 5'splice donor site of an intron.
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