Structure and sequence of the human sulphamidase gene

DNA Research : an International Journal for Rapid Publication of Reports on Genes and Genomes
L E KarageorgosJ J Hopwood

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.

Citations

May 4, 1999·The International Journal of Biochemistry & Cell Biology·D S Anson, J Bielicki
Jan 22, 1998·Proceedings of the National Academy of Sciences of the United States of America·P CarninciY Hayashizaki
Dec 20, 2002·Genetic Testing·Peter L RadyReuben Matalon
May 1, 1997·Human Molecular Genetics·L BlanchJ J Hopwood
Feb 13, 2001·Biochemical and Biophysical Research Communications·P Di NataleS Esposito
Apr 9, 2008·Journal of Inherited Metabolic Disease·M J ValstarF A Wijburg
Mar 10, 2010·Journal of Forensic and Legal Medicine·Polichronis VoultsosMaria Vlachou
Aug 25, 2009·Molecular Genetics and Metabolism·Kim M HemsleyJohn J Hopwood
Dec 15, 2006·Molecular Genetics and Metabolism·Kim M HemsleyJohn J Hopwood
Apr 19, 2003·Clinical Genetics·P Di NataleA Bartuli
Nov 10, 2010·Annals of Neurology·Marlies J ValstarFrits A Wijburg
Nov 16, 2004·Molecular Genetics and Metabolism·Magda MontfortLluïsa Vilageliu
Sep 14, 2011·Clinica Chimica Acta; International Journal of Clinical Chemistry·S OuesletiS Bekri
Oct 21, 2011·Biochemistry Research International·Maria Francisca CoutinhoSandra Alves
Aug 7, 2019·Metabolic Brain Disease·Himani TanwarHatem Zayed
Aug 13, 1998·Journal of Inherited Metabolic Disease·B WeberJ J Hopwood
Mar 23, 2000·Biochimica Et Biophysica Acta·S EspositoP Di Natale

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