Article
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.
Human genetics - 1 Apr 1998
Gomez-Lira M, Perusi C, Mottes M, Pignatti P F, Manfredi M, Rizzuto N, Salviati A
Abstract excerpt
Metachromatic leukodystrophy (MLD) is an autosomal recessive storage disease caused by deficiency of the lysosomal enzyme, arylsulfatase A. Two common mutations causing MLD have been characterized and correlations between phenotype and genotype have been established. A third common mutation, T799...
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