A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient

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Abstract

A T > C transition (L428P) was detected in the arylsulfatase A alleles of a late infantile metachromatic leukodystrophy patient. The mutation causes a Leu > Pro substitution in exon 8. It lies in a region conserved among arylsulfatases. The mutation was not detected in 37 other patients and in 57 normal controls.

Original languageEnglish
Pages (from-to)65-67
Number of pages3
JournalClinical Genetics
Volume52
Issue number1
Publication statusPublished - 1997

Keywords

  • Arylsulfatase A deficiency
  • Lysosomal storage disease
  • Metabolic disease
  • Metachromatic leukodystrophy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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