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http://purl.uniprot.org/citations/1487238http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/1487238http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/1487238http://www.w3.org/2000/01/rdf-schema#comment"We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote for a previously undiscovered G > A mutation at position 1479, causing an arginine to histidine change, was detected. The same mutation, in heterozygosis, was identified in 6 unrelated patients, but not in 100 normal chromosomes."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.org/dc/terms/identifier"doi:10.1007/bf00220071"xsd:string
http://purl.uniprot.org/citations/1487238http://purl.org/dc/terms/identifier"doi:10.1007/bf00220071"xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Gatti R."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Gatti R."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Brocca S."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Brocca S."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Danesino C."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Danesino C."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Fattore S."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Fattore S."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Gianazza E."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Gianazza E."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Minelli A."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Minelli A."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Mosna G."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Mosna G."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Piantanida M."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Piantanida M."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Trubia M."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Trubia M."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Tubiello G."xsd:string
http://purl.uniprot.org/citations/1487238http://purl.uniprot.org/core/author"Tubiello G."xsd:string