| http://purl.uniprot.org/citations/7761348 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7761348 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations at the mouse pink-eyed dilution locus, p, cause hypopigmentation. We have cloned the mouse p gene cDNA and the cDNA of its human counterpart, P. The region of mouse chromosome 7 containing the p locus is syntenic with human chromosome 15q11-q13, a region associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS), both of which involve profound imprinting effects. PWS patients lack sequences of paternal origin from 15q, whereas AS patients lack a maternal copy of an essential region from 15q. However, the critical regions for these syndromes are much smaller than the chromosomal region commonly deleted that often includes the P gene. Hypopigmentation in PWS and AS patients is correlated with deletions of one copy of the human P gene that is highly homologous with its mouse counterpart. A subset of PWS and AS patients also have OCA2. These patients lack one copy of the P gene in the context of a PWS or AS deletion, with a mutation in the remaining chromosomal homologue of the P gene. Mutations in both homologues of the P gene of OCA2 patients who do not have PWS or AS have also been detected."xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1600-0749.1994.tb00068.x"xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/author | "Francke U."xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/author | "Meitinger T."xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/author | "King R."xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/author | "Gardner J.M."xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/author | "Nakatsu Y."xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/author | "Schuffenhauer S."xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/author | "Brilliant M.H."xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/author | "Durham-Pierre D."xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/name | "Pigment Cell Res"xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/pages | "398-402"xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/title | "The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2."xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://purl.uniprot.org/core/volume | "7"xsd:string |
| http://purl.uniprot.org/citations/7761348 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7761348 |
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