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Article

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).

Clinical genetics - 1 Mar 2002

Lee-Chen G J, Lin S P, Ko M H, Chuang C K, Chen C P, Lee H H, Cheng S C, Shen C H, Tseng K L, Li C L

Abstract excerpt

Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA; MPS IIIA) is caused by a deficiency of the lysosomal enzyme haparan N-sulphatase (NS). The genomic DNA segments of the NS gene from two Chinese patients with MPS IIIA were amplified by polymerase chain reaction, followed by DNA sequencing to study the molecular lesions. Four mutations (i.e. N42K, D235N, P293S and R377C) and five polymorphisms (i.e....

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Identifiers

PMID: 12000360
DOI: 10.1034/j.1399-0004.2002.610304.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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