Article
Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits.
American journal of medical genetics - 5 Jun 1995
Mitchison H M, O'Rawe A M, Lerner T J, Taschner P E, Schlumpf K, D'Arigo K, de Vos N, Gormally E, Phillips H A, Thompson A D
Abstract excerpt
Haplotype analysis in a collaborative collection of 143 families with juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten (Spielmeyer-Vogt-Sjögren) disease has permitted refined localization of the disease gene, CLN3, which was assigned to chromosome 16 in 1989. Recombination events in four maternal meioses delimit new flanking genetic markers for CLN3 which localize the gene to the chromosome interval...
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