Article
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene.
Molecular and cellular probes - 1 Dec 1997
Perusi C, Gomez-Lira M, Mottes M, Pignatti P F, Rizzuto N, Salviati A
Abstract excerpt
A novel mutation, a C-->T transition at nucleotide 455 of the coding sequence of the ARSA gene, was found in a control individual during the search for metachromatic leukodystrophy mutations. Its distribution in three different populations was examined. The frequency of the T allele was 0.058, 0.025 and 0.033, in Italian, German and Greek populations, respectively. The mutation results in no amino acid...
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