| http://purl.uniprot.org/citations/23504663 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23504663 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23504663 | http://www.w3.org/2000/01/rdf-schema#comment | "Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations in the OCA genes; 14 from a cohort of 61 patients seen as part of the NIH OCA Natural History Study and eight from a prior study at the University of Minnesota. We also include a comprehensive list of almost 600 previously reported OCA mutations along with ethnicity information, carrier frequencies, and in silico pathogenicity predictions as a supplement. In addition to discussing the clinical and molecular features of OCA, we address the cases of apparent missing heritability. In our cohort, 26% of patients did not have two mutations in a single OCA gene. We demonstrate the utility of multiple detection methods to reveal mutations missed by Sanger sequencing. Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22315"xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22315"xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Wang C."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Wang C."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Wang X."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Wang X."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Fischer R."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Fischer R."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Huizing M."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Huizing M."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Zein W.M."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Zein W.M."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Adams D.R."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Adams D.R."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Hart R."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Hart R."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Sergeev Y."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Sergeev Y."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Brooks B.P."xsd:string |
| http://purl.uniprot.org/citations/23504663 | http://purl.uniprot.org/core/author | "Brooks B.P."xsd:string |