Molecular bases of metachromatic leukodystrophy in Polish patients.

doi:10.1038/jhg.2010.25

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Article

Molecular bases of metachromatic leukodystrophy in Polish patients.

Journal of human genetics - 1 Jun 2010

Lugowska Agnieszka, Płoski Rafał, Włodarski Paweł, Tylki-Szymańska Anna

Abstract excerpt

Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachromatic leukodystrophy (MLD) showed that four mutations in the ARSA gene accounted for 55% of mutated alleles (c.459+1G>A, p.P426L, p.I179S and c.1204+1G>A). Subsequently, we reported six additional mutations jointly accounting for 10% of mutated alleles. Further sequence analysis of the ARSA gene performed on DNA...

Topics

Adolescent
Adult
Cerebroside-Sulfatase
Humans
Infant
Leukodystrophy, Metachromatic
Mutation
Poland

Source

Open in PubMed

Identifiers

PMID: 20339381
DOI: 10.1038/jhg.2010.25

Genes

ARSA

Variants

Provenance

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