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PreviewIssue DateTitleAuthor(s)
1996Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrowFairbairn, L.; Lashford, L.; Spooncer, E.; McDermott, R.; Lebens, G.; Arrand, J.; Arrand, J.; Bellantuono, I.; Holt, R.; Hatton, C.; Cooper, A.; Besley, G.; Wraith, J.; Anson, D.; Hopwood, J.; Dexter, T.
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.
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.
1996Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndromeIsbrandt, D.; Hopwood, J.; von Figura, K.; Peters, C.
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.
1996Granulocyte-macrophage colony-stimulating factor: presence in human follicular fluid, protein secretion and mRNA expression by ovarian cellsJasper, M.; Brannstrom, M.; Olofsson, J.; Petrucco, O.; Mason, H.; Robertson, S.; Norman, R.
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.