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Strategy for mutation detection in CLN3: characterisation of two Finnish mutations
P B Munroe1, A M O'Rawe, H M Mitchison
1Department of Paediatrics, University College London Medical School, Rayne Institute, UK.
Neuropediatrics
|February 1, 1997
Abstract:
A 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.