| http://purl.uniprot.org/citations/12548288 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12548288 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12548288 | http://www.w3.org/2000/01/rdf-schema#comment | "Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous disease involving abnormalities of melanosomes, platelet dense granules and lysosomes. Here we have used positional candidate and transgenic rescue approaches to identify the genes mutated in ruby-eye 2 and ruby-eye mice (ru2 and ru, respectively), two 'mimic' mouse models of HPS. We also show that these genes are orthologs of the genes mutated in individuals with HPS types 5 and 6, respectively, and that their protein products directly interact. Both genes are previously unknown and are found only in higher eukaryotes, and together represent a new class of genes that have evolved in higher organisms to govern the synthesis of highly specialized lysosome-related organelles."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1087"xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1087"xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Li W."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Li W."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Zhang Q."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Zhang Q."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Roe B.A."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Roe B.A."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Zhao B."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Zhao B."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Liang P."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Liang P."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Copeland N.G."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Copeland N.G."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Jenkins N.A."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Jenkins N.A."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Elliott R.W."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Elliott R.W."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Eicher E.M."xsd:string |
| http://purl.uniprot.org/citations/12548288 | http://purl.uniprot.org/core/author | "Eicher E.M."xsd:string |