| http://purl.uniprot.org/citations/9490297 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9490297 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9490297 | http://www.w3.org/2000/01/rdf-schema#comment | "A 9-bp deletion (2320del9) was detected in the arylsulfatase A genes of a patient with late infantile metachromatic leukodystrophy and of a patient with nonprogressive neurological symptoms and very low arylsulfatase A activity. Both patients are heterozygous for the deletion, which involves codons 406-408 and causes loss of a Ser-Asp-Thr tract in the predicted protein. In both patients the 9-bp deletion lies in a pseudodeficiency allele. The patient with metachromatic leukodystrophy carries the common 459 + 1G > A mutation in the other allele. The other patient is homozygous for the pseudodeficiency allele, and consequently is a compound heterozygote for a metachromatic leukodystrophy allele and a pseudodeficiency allele. We hypothesize that the compound heterozygosity predisposes to the development of nonprogressive neurological symptoms in the presence of additional, still unknown, genetic or nongenetic factors."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390050652"xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390050652"xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Gatti R."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Gatti R."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Caroli F."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Caroli F."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Filocamo M."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Filocamo M."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Corsolini F."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Corsolini F."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Regis S."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Regis S."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Stroppiano M."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/author | "Stroppiano M."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/pages | "50-53"xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/pages | "50-53"xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/title | "A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms."xsd:string |
| http://purl.uniprot.org/citations/9490297 | http://purl.uniprot.org/core/title | "A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms."xsd:string |