| http://purl.uniprot.org/citations/9650766 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9650766 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9650766 | http://www.w3.org/2000/01/rdf-schema#comment | "We report on a sibship in which three members were affected by Gaucher disease. Molecular analysis of the patients showed homozygosity for a novel mutation (C5390G) of the beta-glucocerebrosidase gene, resulting in the substitution of the arginine 353 with a glycine. Western blot analysis showed a reduced amount of beta-glucocerebrosidase-related polypeptides in fibroblasts. The phenotype resulting from this mutation is characterized by visceral and skeletal manifestations. In addition, the presence of seizures and electrophysiological abnormalities only in the 3 patients and in none of the other unaffected sibs suggests that the mutation is responsible for neurologic involvement."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.1998.tb02697.x"xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1399-0004.1998.tb02697.x"xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Gatti R."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Gatti R."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Parenti G."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Parenti G."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Filocamo M."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Filocamo M."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Andria G."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Andria G."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Perretti A."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Perretti A."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Rizzolo G."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Rizzolo G."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Silvestro E."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Silvestro E."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Titomanlio L."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/author | "Titomanlio L."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
| http://purl.uniprot.org/citations/9650766 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |