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https://hdl.handle.net/2440/7202
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Type: | Journal article |
Title: | Structure and sequence of the human sulphamidase gene |
Author: | Karageorgos, L. Guo, X.H. Blanch, L. Weber, B. Anson, D. Scott, H. Hopwood, J. |
Citation: | DNA Research, 1996; 3(4):269-271 |
Publisher: | Oxford University Press (OUP) |
Issue Date: | 1996 |
ISSN: | 1340-2838 1756-1663 |
Abstract: | Sanfilippo A syndrome (MPS-IIIA) is a mucopolysaccharide lysosomal storage disorder caused by a deficiency in the lysosomal enzyme, sulphamidase (EC 3.10.1.1), which is required for the degradation of heparan sulphate. A genomic clone containing the entire sulphamidase gene was isolated from a chromosome 17-specific gridded cosmid library. The structure of the gene and the sequence of the exon/intron boundaries and the 5' promoter region were determined. The sulphamidase gene is split into 8 exons spanning approximately 11 kb. |
Keywords: | Humans Hydrolases DNA, Complementary Blotting, Northern Base Sequence Molecular Sequence Data |
DOI: | 10.1093/dnares/3.4.269 |
Published version: | http://dx.doi.org/10.1093/dnares/3.4.269 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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