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Article

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.

Human mutation - 1 Jan 1993

Hopwood J J, Bunge S, Morris C P, Wilson P J, Steglich C, Beck M, Schwinger E, Gal A

Abstract excerpt

A number of mutations in the X-chromosomal human iduronate-2-sulphatase gene have now been identified as the primary genetic defect leading to the clinical condition known as Hunter syndrome or mucopolysaccharidosis type II. The mutations that are tabulated include different deletions, splice-site and point mutations. From the group of 319 patients thus far studied by Southern analysis, 14 have a full deletion of...

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Identifiers

PMID: 8111411
DOI: 10.1002/humu.1380020603

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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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Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.PMID 8111411Read ↗

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