Article
Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).
American journal of medical genetics - 5 Jun 1995
Taschner P E, de Vos N, Post J G, Meijers-Heijboer E J, Hofman I, Loonen M C, Pinckers A J, Bleeker-Wagemakers E M, Gardiner R M, Breuning M H
Abstract excerpt
Batten disease, or the juvenile form of neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder manifesting with progressive blindness, seizures, and dementia, leading to an early death. The CLN3 locus which is involved in Batten disease had been localized to chromosome 16p11.2. Linkage disequilibrium has been observed between CLN3 and polymorphic microsatellite markers D16S288,...
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