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Article

An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype.

Human mutation - 1 Jan 1992

Litjens T, Morris C P, Robertson E F, Peters C, von Figura K, Hopwood J J

Abstract excerpt

Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomally inherited lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (EC 3.1.6.1; 4-sulfatase). In order to determine the gene defect in a clinically severe MPS VI patient, polymerase chain reaction (PCR) products were generated from the patient's fibroblast mRNA and also from a 4-sulfatase cDNA clone and...

Topics

Amino Acid Sequence
Base Sequence
Child
Chondro-4-Sulfatase
DNA
DNA Mutational Analysis
DNA Probes
Humans
Male
Molecular Sequence Data
Mucopolysaccharidosis VI

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Polymerase Chain Reaction

Source

Identifiers

PMID: 1301949
DOI: 10.1002/humu.1380010509

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1301949-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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