Article
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.
Clinical genetics - 1 Jul 1997
Regis S, Filocamo M, Stroppiano M, Corsolini F, Gatti R
Abstract excerpt
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.
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