Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference9 articles.
1. Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis;Kolodny,1989
2. The incident and genetics of metachromatic leukodystrophy in Northern Sweden;Gustavson;Acta Pediatr Scand,1971
3. Molecular basis of different forms of metachromatic leukodystrophy;Polten;N Engl J Med,1991
4. Prevalence of common mutations in the arylsulfatase A gene in metachromatic leukodystrophy patients diagnosed in Britain;Barth;Hum Genet,1993
5. Cloning and expression of human arylsulfatase A;Stein;J Biol Chem,1989
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1. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy;Gene;2013-11
2. Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation;Clinical Genetics;2008-09-11
3. Mutations c.459+1G>A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries;Molecular Genetics and Metabolism;2005-11
4. Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland;Clinical Genetics;2005-04-12
5. Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy;Molecular Genetics and Metabolism;2003-06
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