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Article

Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.

Human mutation - 1 Jan 1998

Gort L, Chabás A, Coll M J

Abstract excerpt

Mucopolysaccharidosis type 1 is a lysosomal storage disease due to a L-Iduroniase deficiency. Three main phenotypes have been reported: Hurler (severe), Scheie (mild) and Hurler/Scheie (intermediate). High prevalence of mutations W402X and Q70X has been described. We studied these two mutations in 20 unrelated MPSI Spanish patients. In addition we have also analysed the P533R mutation because of its frequency in...

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Identifiers

PMID: 10215409
DOI: 10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU16>3.0.CO;2-P

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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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Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.PMID 10215409Read ↗

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