| http://purl.uniprot.org/citations/18693274 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18693274 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18693274 | http://www.w3.org/2000/01/rdf-schema#comment | "Metachromatic leukodystrophy (MLD), the demyelinating disorder resulting from impaired sulfatide catabolism, is caused by allelic mutations of the Arylsulfatase A (ARSA) locus except for extremely rare cases of Saposin-B (Sap-B) deficiency. We characterized twenty-one unrelated Italian patients among which seventeen were due to ARSA activity deficiency and 4 others resulted from Saposin-B defect. Overall, we found 20 different mutant ARSA alleles and 2 different Sap-B alleles. The eleven new ARSA alleles (c.53C>A; c.88G>C; c.372G>A; c.409_411delCCC; c.634G>C; [c.650G>A;c.1108C>T]; c.845A>G; c.906G>C; c.919G>T; c.1102-3C>G; c.1126T>A) were functionally characterized and the novel amino acid changes were also modelled into the three-dimensional structure. The present study is aimed at providing a broader picture of the molecular basis of MLD in the Italian population. It also emphasizes the importance of a comprehensive evaluation in MLD diagnosis including biochemical, enzymatic and molecular investigations."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20851"xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20851"xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Rosano C."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Rosano C."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Uziel G."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Uziel G."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Parenti G."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Parenti G."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Filocamo M."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Filocamo M."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Biancheri R."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Biancheri R."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Corsolini F."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Corsolini F."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Deodato F."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Deodato F."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Di Rocco M."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Di Rocco M."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Grossi S."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Grossi S."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Leuzzi V."xsd:string |
| http://purl.uniprot.org/citations/18693274 | http://purl.uniprot.org/core/author | "Leuzzi V."xsd:string |