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Article

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.

Clinical genetics - 1 Feb 2012

Sohn Y B, Ki C-S, Kim C-H, Ko A-R, Yook Y-J, Lee S-J, Kim S J, Park S W, Yeau S, Kwon E-K, Han S J, Choi E W, Lee S-Y, Kim J-W, Jin D-K

Abstract excerpt

Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). As MPS II is X-linked, patients are usually males with heterogeneous mutations ranging from point mutations to gross deletions and recombination. In 2003, we reported a mutation analysis of 25 patients with MPS II. In this study, 31 mutations in another 49 Korean...

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Source

Identifiers

PMID: 21291454
DOI: 10.1111/j.1399-0004.2011.01641.x

Genes

IDS

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.PMID 21291454Read ↗

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