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Article

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.

Biochimica et biophysica acta - 15 Apr 2000

Esposito S, Balzano N, Daniele A, Villani G R, Perkins K, Weber B, Hopwood J J, Di Natale P

Abstract excerpt

Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) results from the deficiency of the enzyme heparan N-sulfatase (NS, EC 3.10.1.1), required for the degradation of heparan sulfate. Molecular defects of 24 Italian MPS IIIA patients were recently reported by our group. We report here two novel mutations: 1040insT and Q365X and the expression studies on 15 of the identified defects. Transient...

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PMID: 10727844
DOI: 10.1016/s0925-4439(99)00118-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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