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Article

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.

Clinical genetics - 1 Jul 2005

Ługowska A, Berger J, Tylki-Szymańska A, Löschl B, Molzer B, Zobel M, Czartoryska B

Abstract excerpt

The occurrence and genotype-phenotype correlations of the eight most common mutations in the arylsulfatase A (ARSA) gene were studied in 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD). Screening for mutations p.R84Q, p.S96F, c.459+1G>A, p.I179S, p.A212V, c.1204+1G>A, p.P426L, and c.1401-1411del allowed the identification of 53.5% of the mutant alleles. In the...

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Identifiers

PMID: 15952986
DOI: 10.1111/j.1399-0004.2005.00451.x

Genes

ARSA

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Source receipt: pubmed, retrieved 7 Sept 2026.

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