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[Molecular basis of mucopolysaccaridosis type VII (beta-glucuronidase deficiency)].

Rinsho byori. The Japanese journal of clinical pathology - 1 Sept 1990

Tomatsu S, Fukuda S, Sukegawa K, Yamaguchi S, Sasaki T, Ikedo Y, Orii T

Abstract excerpt

We have identified several mutations causing beta-glucuronidase (beta Gl) deficiency in three cases with mucopolysaccaridosis type VII (MPS VII). Enzyme assay of lysates of these lymphocytes or cultured fibroblasts showed little residual activity and that the beta Gl-specific mRNA levels were normal, as revealed by Northern blot analysis. Mutated cDNA clones including the entire coding sequencing were isolated...

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Identifiers

PMID: 2232263

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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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