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Results 1-10 of 18 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1996Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patientsLitjens, T.; Brooks, D.; Peters, C.; Gibson, G.; Hopwood, J.
2004Nxf and Fbxo33: novel seizure-responsive genes in miceFlood, W.; Moyer, R.; Tsykin, A.; Sutherland, G.; Koblar, S.
1995Assignment of the human skeletal muscle a-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridizationEyre, H.; Akkari, P.; Wilton, S.; Callen, D.; Baker, E.; Laing, N.
1999The Batten disease gene product (CLN3p) is a Golgi integral membrane proteinKremmidiotis, G.; Lensink, I.; Bilton, R.; Woollatt, E.; Chataway, T.; Sutherland, G.; Callen, D.
1995Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisationHunt, C.; Eyre, H.; Akkari, P.; Meredith, C.; Dorosz, S.; Wilton, S.; Callen, D.; Laing, N.; Baker, E.
1995Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase proteinBrooks, D.; Robertson, D.; Bindloss, C.; Litjens, T.; Anson, D.; Peters, C.; Morris, C.; Hopwood, J.
1995The CEPH consortium linkage map of human chromosome 16Kozman, H.; Keith, T.; Donis-Keller, H.; White, R.; Weissenbach, J.; Sutherland, G.
1996Feline mucopolysaccharidosis type VI - characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the diseaseYogalingam, G.; Litjens, T.; Bielicki, J.; Crawley, A.; Muller, V.; Anson, D.; Hopwood, J.
1998Complex organisation of the 5'-end of the human glycine tRNA synthetase geneMudge, S.; Williams, J.; Eyre, H.; Sutherland, G.; Cowan, P.; Power, D.
2004Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardationWeaving, L.; Christodoulou, J.; Williamson, S.; Friend, K.; McKenzie, O.; Archer, H.; Evans, J.; Clarke, A.; Pelka, G.; Tam, P.; Watson, C.; Lahooti, H.; Ellaway, C.; Bennetts, B.; Leonard, H.; Gecz, J.