Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A new polymorphism of arylsulfatase A within the coding region.

Human genetics - 1 Sept 1996

Berger J, Gmach M, Faé I, Molzer B, Bernheimer H

Abstract excerpt

A 10-year-old boy with juvenile metachromatic leukodystrophy (MLD) presented with the 459 + 1G-->A arylsulfatase A (ASA) mutation on one allele. To detect his complete genotype, the other ASA allele was sequenced and a T-to-C transition at nucleotide 376 in exon 2 was identified. This missense mutation results in a substitution of leucine 76 by proline. Of 20 MLD unrelated controls, 18 carried the L/P76 mutation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Base Sequence
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Primers

Share to Heterozygote

Share to Molecular Sequence Data

Share to Mutation

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 8707308
DOI: 10.1007/s004390050221

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new polymorphism of arylsulfatase A within the coding region.PMID 8707308Read ↗

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

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

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.Semantic proximity Read ↗

Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.Semantic proximity Read ↗

Molecular genetics of metachromatic leukodystrophy.Semantic proximity Read ↗

Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.Semantic proximity Read ↗

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.Semantic proximity Read ↗

Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.Semantic proximity Read ↗

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

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.