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Article

Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

Human genetics - 1 Feb 2003

Storch Stephan, Wittenstein Birgit, Islam Rafiqul, Ullrich Kurt, Sly William S, Braulke Thomas

Abstract excerpt

Mucopolysaccharidosis VII (MPS VII) is an autosomal recessive disorder caused by the deficiency of beta-glucuronidase leading to the intralysosomal storage of heparan, dermatan, and chondroitin sulfate. Here, we report the identification of two novel missense mutations K350N and R577L in a 37-year-old patient with beta-glucuronidase deficiency and a relatively mild MPS VII phenotype. Expression of the K350N...

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Identifiers

PMID: 12522561
DOI: 10.1007/s00439-002-0849-5

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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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