Associated Papers
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
Luzi P et al.
Gene, 2013
An Italian cohort study identifies four new pathologic mutations in the ARSA gene.
Galla D et al.
Journal of Molecular Neuroscience : Mn, 2013
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
Cesani M et al.
Human Mutation, 2009
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Grossi S et al.
Human Mutation, 2008
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.
Biffi A et al.
Clinical Genetics, 2008
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