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Article

Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.

European review for medical and pharmacological sciences - 1 Jul 2022

Ramírez-Hernández M A, Figuera L E, Rizo-de la Torre L C, Mendoza-Ruvalcaba M T Magaña-Torres S C, Arnaud-López L, García-Ortiz J E, Zúñiga-González G M, Puebla-Pérez A M, Gómez-Meda B C, Gallegos-Arreola M P

Abstract excerpt

OBJECTIVE: Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which is responsible for degrading heparan and dermatan sulfate. The IDS gene is located on chromosome Xq28; pathological variants in this gene mostly consist of missense mutations and small and larger deletions, which produce different phenotypes. However, there is...

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Identifiers

PMID: 35916809
DOI: 10.26355/eurrev_202207_29300

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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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Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.PMID 35916809Read ↗

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