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Article

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).

Archives of disease in childhood - 1 Sept 1998

Vafiadaki E, Cooper A, Heptinstall L E, Hatton C E, Thornley M, Wraith J E

Abstract excerpt

Genomic DNA from 57 unrelated MPS II (Hunter's disease) patients was analysed for mutations of the iduronate sulphatase (IDS) gene. The aim of the study was threefold: to identify the primary genetic lesion in patients, to investigate the correlation between genotype and phenotype, and most importantly, to provide reliable carrier testing for female members once the family mutation was identified. In 42 patients,...

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Identifiers

PMID: 9875019
DOI: 10.1136/adc.79.3.237
PMCID: PMC1717680

Genes

IDS

Provenance

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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Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).PMID 9875019Read ↗

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