| http://purl.uniprot.org/citations/11592818 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11592818 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11592818 | http://www.w3.org/2000/01/rdf-schema#comment | "Hermansky-Pudlak syndrome (HPS) consists of oculocutaneous albinism and a bleeding diathesis due to absent platelet dense bodies. In addition to exhibiting considerable phenotypic variation, this autosomal recessive disorder displays locus heterogeneity. One causative gene is HPS1, coding for a protein of unknown function and resulting in HPS-1 disease, common in northwest Puerto Rico. A second HPS-causing gene is ADTB3A, coding for the beta3A subunit of adaptor complex-3 (AP-3, a coat protein complex) and resulting in HPS-2 disease. Each of these HPS subtypes has a murine counterpart, specifically pale ear for HPS-1 and pearl for HPS-2. Recently, the HPS3 gene, responsible for HPS-3 disease in a genetic isolate of central Puerto Rico, was isolated and characterized. Its location on human chromosome 3q24 suggested that the mouse model corresponding to HPS-3 disease might be subtle gray. To examine this possibility, we determined the mouse HPS3 sequence, its genomic organization, and its amino acid sequence, which shares 95.8% identity with the human protein. We demonstrated that the subtle gray mouse produces a normal size and amount of HPS3 mRNA and has an entirely normal sequence in every exon and intron/exon boundary. Furthermore, subtle gray exhibits a normal contingent of platelet dense bodies. Together, these data eliminate subtle gray as a murine model for HPS-3 disease and suggest that other mouse models be examined."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.org/dc/terms/identifier | "doi:10.1006/mgme.2001.3233"xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.org/dc/terms/identifier | "doi:10.1006/mgme.2001.3233"xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/author | "White J.G."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/author | "White J.G."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/author | "Anikster Y."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/author | "Anikster Y."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/author | "Huizing M."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/author | "Huizing M."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/name | "Mol. Genet. Metab."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/name | "Mol. Genet. Metab."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/pages | "217-225"xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/pages | "217-225"xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/title | "Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the subtle gray (sut) locus."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/title | "Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the subtle gray (sut) locus."xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/volume | "74"xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://purl.uniprot.org/core/volume | "74"xsd:string |
| http://purl.uniprot.org/citations/11592818 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11592818 |
| http://purl.uniprot.org/citations/11592818 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11592818 |