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Article

Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.

Gene - 14 May 1990

Tomatsu S, Sukegawa K, Ikedo Y, Fukuda S, Yamada Y, Sasaki T, Okamoto H, Kuwabara T, Orii T

Abstract excerpt

We have identified a mutation causing beta-glucuronidase (beta Gl) deficiency in a 6-year-old girl with mucopolysaccharidosis type VII. Enzyme assay of lysates of a girl's lymphocytes or cultured fibroblasts showed little residual activity and a normal beta Gl-specific mRNA level, as revealed by...

Topics

Alanine
Amino Acid Sequence
Animals
Base Sequence
Cell Line
Child
Female
Gene Library
Glucuronidase
Humans
Molecular Sequence Data
Mucopolysaccharidoses
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligonucleotide Probes

Polymerase Chain Reaction

Restriction Mapping

Sequence Homology, Nucleic Acid

Valine

Source

Identifiers

PMID: 2115490
DOI: 10.1016/0378-1119(90)90019-n

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2115490-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.PMID 2115490Read ↗

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