Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.

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Article

Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.

American journal of human genetics - 1 Jan 1991

Tomatsu S, Fukuda S, Sukegawa K, Ikedo Y, Yamada S, Yamada Y, Sasaki T, Okamoto H, Kuwahara T, Yamaguchi S

Abstract excerpt

We identified two different exonic point mutations causing beta-glucuronidase (beta G1) deficiency in two Japanese patients with mucopolysaccharidosis type VII (MPSVII). Enzyme assay of lysates of the lymphocytes and cultured fibroblasts showed little residual activity. The beta G1-specific mRNA levels were normal, as determined by northern blot analysis. Mutated cDNA clones, including the entire coding sequence,...

Topics

Adult
Base Sequence
Blotting, Northern
Cells, Cultured
Child
DNA
Female
Fibroblasts
Genetic Variation
Glucuronidase
Humans
Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mucopolysaccharidoses

Mutation

Polymerase Chain Reaction

RNA

Source

Open in PubMed Open full text

Identifiers

PMID: 1702266
PMCID: PMC1682743

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1702266-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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