http://purl.uniprot.org/citations/9272717 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/9272717 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/9272717 | http://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/9272717 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.1997.tb02518.x"xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.1997.tb02518.x"xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/author | "Gatti R."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/author | "Gatti R."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/author | "Filocamo M."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/author | "Filocamo M."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/author | "Corsolini F."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/author | "Corsolini F."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/author | "Regis S."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/author | "Regis S."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/author | "Stroppiano M."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/author | "Stroppiano M."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/pages | "65-67"xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/pages | "65-67"xsd:string |
http://purl.uniprot.org/citations/9272717 | http://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/9272717 | http://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/9272717 | http://purl.uniprot.org/core/volume | "52"xsd:string |
http://purl.uniprot.org/citations/9272717 | http://purl.uniprot.org/core/volume | "52"xsd:string |