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Article

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.

American journal of medical genetics. Part A - 1 Jul 2003

Ricci Verena, Filocamo Mirella, Regis Stefano, Corsolini Fabio, Stroppiano Marina, Di Duca Marco, Gatti Rosanna

Abstract excerpt

Hunter syndrome (Mucopolysaccharidosis type II) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS). To date, more than 200 different mutations have been reported in the IDS gene, located on Xq27.3-q28. Here, we report two new...

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Source

Identifiers

PMID: 12794697
DOI: 10.1002/ajmg.a.10215

Genes

IDS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12794697-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.PMID 12794697Read ↗

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