Structure and Sequence of the Human Sulphamidase Gene

doi:10.1093/dnares/3.4.269

Article

Structure and Sequence of the Human Sulphamidase Gene

1 Jan 1996

Abstract excerpt

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...

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