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Article

Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.

American journal of medical genetics - 31 Mar 1997

Berger J, Löschl B, Bernheimer H, Lugowska A, Tylki-Szymanska A, Gieselmann V, Molzer B

Abstract excerpt

Occurrence, distribution, and phenotype of arylsulfatase A (ASA) mutations were investigated in 27 patients with metachromatic leukodystrophy (MLD) from Central Europe, mainly from Austria (n = 15) and Poland (n = 9). Genomic DNA from leukocytes, fibroblasts, or paraffin-embedded, formalin-fixed brain or nerve tissue, respectively, was tested by natural or mutated primer-modulated PCR restriction, fragment length...

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PMID: 9096767

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.PMID 9096767Read ↗

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.Semantic proximity Read ↗

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.Semantic proximity Read ↗

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.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 ↗

Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.Semantic proximity Read ↗

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

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