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Article

Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.

American journal of human genetics - 1 Dec 1991

Fluharty A L, Fluharty C B, Bohne W, von Figura K, Gieselmann V

Abstract excerpt

Fragments of the arylsulfatase A (ARSA) gene from a patient with juvenile-onset metachromatic leukodystrophy (MLD) were amplified by PCR and ligated into MP13 cloning vectors. Clones hybridizing with cDNA for human ARSA were selected, examined for appropriate size inserts, and used to prepare single-stranded phage DNA. Examination of the entire coding and most of the intronic sequence revealed two putative...

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Source

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Identifiers

PMID: 1684088
PMCID: PMC1686463

Genes

ARSA

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.PMID 1684088Read ↗

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.Semantic proximity Read ↗

Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).Semantic proximity Read ↗

Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.Semantic proximity Read ↗

Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.Semantic proximity Read ↗

Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.Semantic proximity Read ↗

Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.Semantic proximity Read ↗

Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.Semantic proximity Read ↗

A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.Semantic proximity Read ↗

A new polymorphism of arylsulfatase A within the coding region.Semantic proximity Read ↗

Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.Semantic proximity Read ↗

Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.Semantic proximity Read ↗

Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.Semantic proximity Read ↗

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