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

Research output: Contribution to journalArticle

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

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Cerebroside-Sulfatase
Metachromatic Leukodystrophy
Arylsulfatases
Mutation
Genes
Exons
Alleles

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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title = "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",
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.",
keywords = "Arylsulfatase A deficiency, Lysosomal storage disease, Metabolic disease, Metachromatic leukodystrophy",
author = "Stefano Regis and Mirella Filocamo and Marina Stroppiano and Fabio Corsolini and Rosanna Gatti",
year = "1997",
language = "English",
volume = "52",
pages = "65--67",
journal = "Clinical Genetics",
issn = "0009-9163",
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T1 - 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

AU - Regis, Stefano

AU - Filocamo, Mirella

AU - Stroppiano, Marina

AU - Corsolini, Fabio

AU - Gatti, Rosanna

PY - 1997

Y1 - 1997

N2 - 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.

AB - 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.

KW - Arylsulfatase A deficiency

KW - Lysosomal storage disease

KW - Metabolic disease

KW - Metachromatic leukodystrophy

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