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Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample.

Pharmacogenetics and genomics - 1 Dec 2005

Gratz Matthias, Kunert-Keil Christiane, John Ulrich, Cascorbi Ingolf, Kroemer Heyo K

Abstract excerpt

The deleterious consequences of total beta-glucuronidase deficiency, leading to symptomatic mucopolysaccharidosis type VII (MPS VII), have been firmly established. However, the question of whether sequence variations in beta-glucuronidase of non-MPS VII patients affect expression of the enzyme, thereby explaining the wide inter-individual expression, has not been addressed in a systematic manner. In the present...

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Identifiers

PMID: 16272959
DOI: 10.1097/01213011-200512000-00005

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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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