Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

doi:10.1007/BF00212019

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Article

Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Human genetics - 1 Mar 1994

Voskoboeva E, Isbrandt D, von Figura K, Krasnopolskaya X, Peters C

Abstract excerpt

Mucopolysaccharidosis type VI (MPSVI, Maroteaux-Lamy syndrome) is a lysosomal storage disease for which multiple clinical phenotypes have been described. A deficiency of the enzyme arylsulfatase B (ASB, N-acetylgalactosamine-4-sulfatase) is the cause of this autosomal recessively inherited disorder. The genotypes of two patients with an intermediate form of MPSVI have been determined by polymerase chain reaction...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Cell Line
Child
Child, Preschool
Chondro-4-Sulfatase
DNA
Female
Humans
Infant
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mucopolysaccharidosis VI

Pedigree

Point Mutation

Polymerase Chain Reaction

Protein Biosynthesis

Source

Open in PubMed

Identifiers

PMID: 8125475
DOI: 10.1007/BF00212019

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8125475-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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