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

@article{Lugowska2005MutationsCA,
  title={Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.},
  author={Agnieszka Lugowska and Olga Amaral and Johannes Berger and Linda Bern{\'a} and Nils U. Bosshard and Amparo Chab{\'a}s and Anthony H. Fensom and Volkmar Gieselmann and Natalia G Gorovenko and Willy Lissens and J -E Mansson and Ana M Marc{\~a}o and Helen M Michelakakis and Hanno Bernheimer and Natalia V Ol'khovych and Stefano Regis and Richard J. Sinke and Anna Tylki-Szymańska and Barbara Czartoryska},
  journal={Molecular genetics and metabolism},
  year={2005},
  volume={86 3},
  pages={353-9}
}
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… CONTINUE READING