Article
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
Molecular genetics and metabolism - 1 Nov 2005
Lugowska Agnieszka, Amaral Olga, Berger Johannes, Berna Linda, Bosshard Nils U, Chabas Amparo, Fensom Anthony, Gieselmann Volkmar, Gorovenko Natalia G, Lissens Willy, Mansson Jan-Eric, Marcao Ana, Michelakakis Helen, Bernheimer Hanno, Ol'khovych Natalia V, Regis Stefano, Sinke Richard, Tylki-Szymanska Anna, Czartoryska Barbara
Abstract excerpt
In this multicentre study, we examined the prevalence of two mutations in the arylsulfatase A (ARSA) gene, i.e., c.459+1G>A and p.P426L, in 384 unrelated European patients presenting with different types of metachromatic leukodystrophy (MLD). In total, c.459+1G>A was found 194 times among the 768 investigated ARSA alleles (25%), whereas p.P426L was identified 143 times (18.6%). Thus, these two mutations accounted...
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