Associated Papers
Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.
Wu S et al.
Journal of Molecular Neuroscience : Mn, 2021
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
Virgens MY et al.
Gene, 2015
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
Luzi P et al.
Gene, 2013
Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.
Ługowska A et al.
Clinical Genetics, 2005
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
Eng B et al.
Human Mutation, 2003
Metachromatic leukodystrophy: molecular genetics and an animal model.
Gieselmann V et al.
Journal of Inherited Metabolic Disease, 1998
Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.
Coulter-Mackie M et al.
American Journal of Medical Genetics, 1997
Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.
Coulter-Mackie MB et al.
Journal of Medical Genetics, 1997
Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.
Berger J et al.
American Journal of Medical Genetics, 1997
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
Draghia R et al.
Human Mutation, 1997
A new polymorphism of arylsulfatase A within the coding region.
Berger J et al.
Human Genetics, 1996
The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.
Barth ML et al.
Journal of Medical Genetics, 1994
Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
Barth ML et al.
Human Molecular Genetics, 1993
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