Munroe, P B; Mitchison, H M; O'Rawe, A M et al. (1997) Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet 61:310-6
|
Mitchison, H M; Taschner, P E; Kremmidiotis, G et al. (1997) Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein. Neuropediatrics 28:12-4
|
Mitchison, H M; Munroe, P B; O'Rawe, A M et al. (1997) Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics 40:346-50
|
Munroe, P B; O'Rawe, A M; Mitchison, H M et al. (1997) Strategy for mutation detection in CLN3: characterisation of two Finnish mutations. Neuropediatrics 28:15-7
|
Janes, R W; Munroe, P B; Mitchison, H M et al. (1996) A model for Batten disease protein CLN3: functional implications from homology and mutations. FEBS Lett 399:75-7
|
Jarvela, I; Mitchison, H M; Munroe, P B et al. (1996) Rapid diagnostic test for the major mutation underlying Batten disease. J Med Genet 33:1041-2
|
Munroe, P B; Rapola, J; Mitchison, H M et al. (1996) Prenatal diagnosis of Batten's disease. Lancet 347:1014-5
|
Dooley, T P; Probst, P; Obermoeller, R D et al. (1995) Phenol sulfotransferases: candidate genes for Batten disease. Am J Med Genet 57:327-32
|
Nguyen, Q; Sapp, D W; Van Ness, P C et al. (1995) Modulation of GABAA receptor binding in human brain by neuroactive steroids: species and brain regional differences. Synapse 19:77-87
|
Mitchison, H M; Taschner, P E; O'Rawe, A M et al. (1994) Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association. Genomics 22:465-8
|
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