| http://purl.uniprot.org/citations/12794687 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12794687 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12794687 | http://www.w3.org/2000/01/rdf-schema#comment | "Salla disease, one of three disease phenotypes that manifest increased urinary excretion of unconjugated sialic acid, is an autosomal recessive condition caused by a mutation in SLC17A5. This gene encodes sialin, a lysosomal membrane transporter for sialic acid. Salla disease is rare outside of individuals of Finnish ancestry. In this report we describe the disorder in non-Finnish monozygous twin siblings, the first reported American cases of Salla disease."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.10246"xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.10246"xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Kleta R."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Kleta R."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Slaugh R."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Slaugh R."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Huizing M."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Huizing M."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Natowicz M."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Natowicz M."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Krasnewich D."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Krasnewich D."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Martin R.A."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Martin R.A."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Orvisky E."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Orvisky E."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Pearlman K."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/author | "Pearlman K."xsd:string |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12794687 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |