Article
A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.
Journal of inherited metabolic disease - 1 Jan 1996
Lissens W, Vervoort R, Van Regemorter N, Van Bogaert P, Freund M, Verellen-Dumoulin C, Seneca S, Liebaers I
Abstract excerpt
Metachromatic leukodystrophy (MLD) is an autosomal recessive disease of myelin metabolism caused by a deficiency in the lysosomal enzyme arylsulphatase A (ARSA). We have identified a new mutation in exon 4 of the ARSA gene of two unrelated Belgian patients with late-infantile MLD. The mutation predicts an aspartic acid-to-histidine substitution at position 255 in arylsulphatase A (D255H), in a highly conserved...
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