| http://purl.uniprot.org/citations/12713581 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12713581 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12713581 | http://www.w3.org/2000/01/rdf-schema#comment | "Type 2 oculocutaneous albinism (OCA2) is an autosomal recessive disorder that results from mutations in the P gene that codes one of the melanosomal proteins, the function of which remains unknown. In this paper, we report the frequency of OCA2, 8%, among the Japanese albino population, six novel mutations containing four missense substitutions (P198L, P211L, R10W, M398I), and two splice site mutations (IVS15+1 G>A, IVS24-1 G>C). One of them, R10W, was within the putative signal peptide at the N-terminal of the P protein. This is the first report on the frequency of OCA2 in the Japanese albino population."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1523-1747.2003.12127.x"xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.org/dc/terms/identifier | "doi:10.1046/j.1523-1747.2003.12127.x"xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Ishikawa T."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Ishikawa T."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Suzuki T."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Suzuki T."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Shimizu H."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Shimizu H."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Tomita Y."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Tomita Y."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Miyamura Y."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Miyamura Y."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Matsunaga J."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Matsunaga J."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Kawachi Y."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Kawachi Y."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Ishikawa O."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Ishikawa O."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Ohyama N."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Ohyama N."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Terao H."xsd:string |
| http://purl.uniprot.org/citations/12713581 | http://purl.uniprot.org/core/author | "Terao H."xsd:string |