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http://purl.uniprot.org/citations/9272717http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9272717http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/9272717http://www.w3.org/2000/01/rdf-schema#comment"A T > C transition (L428P) was detected in the arylsulfatase A alleles of a late infantile metachromatic leukodystrophy patient. The mutation causes a Leu > Pro substitution in exon 8. It lies in a region conserved among arylsulfatases. The mutation was not detected in 37 other patients and in 57 normal controls."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.org/dc/terms/identifier"doi:10.1111/j.1399-0004.1997.tb02518.x"xsd:string
http://purl.uniprot.org/citations/9272717http://purl.org/dc/terms/identifier"doi:10.1111/j.1399-0004.1997.tb02518.x"xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/author"Gatti R."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/author"Gatti R."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/author"Filocamo M."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/author"Filocamo M."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/author"Corsolini F."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/author"Corsolini F."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/author"Regis S."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/author"Regis S."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/author"Stroppiano M."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/author"Stroppiano M."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/date"1997"xsd:gYear
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/date"1997"xsd:gYear
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/name"Clin. Genet."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/name"Clin. Genet."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/pages"65-67"xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/pages"65-67"xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/title"A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/title"A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient."xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/volume"52"xsd:string
http://purl.uniprot.org/citations/9272717http://purl.uniprot.org/core/volume"52"xsd:string