http://purl.uniprot.org/citations/8666378 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/8666378 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/8666378 | http://www.w3.org/2000/01/rdf-schema#comment | "Blue cone monochromacy is an X-linked condition in which the function of both the red pigment gene (RCP) and the green pigment gene (GCP) is impaired. Blue cone monochromacy can be due to a red/green gene array rearrangement existing of a single red/green hybrid gene and an inactivating C203R point mutation in GCP. We describe here a family with blue cone monochromacy due to the presence of the C203R mutation in both RCP and GCP. The flanking sequences of the C203R mutation in exon 4 of RCP were characteristic for GCP, indicating that this mutation was transferred from GCP into RCP by gene conversion."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1995.9998"xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1995.9998"xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Meire F."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Meire F."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Willems P.J."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Willems P.J."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Reyniers E."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Reyniers E."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "De Boulle K."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "De Boulle K."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Devries K."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Devries K."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Kestelijn P."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Kestelijn P."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Van Thienen M.N."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/author | "Van Thienen M.N."xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/pages | "323-328"xsd:string |
http://purl.uniprot.org/citations/8666378 | http://purl.uniprot.org/core/pages | "323-328"xsd:string |