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http://purl.uniprot.org/citations/8666378http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/8666378http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/8666378http://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/8666378http://purl.org/dc/terms/identifier"doi:10.1006/geno.1995.9998"xsd:string
http://purl.uniprot.org/citations/8666378http://purl.org/dc/terms/identifier"doi:10.1006/geno.1995.9998"xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Meire F."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Meire F."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Willems P.J."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Willems P.J."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Reyniers E."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Reyniers E."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"De Boulle K."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"De Boulle K."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Devries K."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Devries K."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Kestelijn P."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Kestelijn P."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Van Thienen M.N."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/author"Van Thienen M.N."xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/date"1995"xsd:gYear
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/date"1995"xsd:gYear
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/name"Genomics"xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/name"Genomics"xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/pages"323-328"xsd:string
http://purl.uniprot.org/citations/8666378http://purl.uniprot.org/core/pages"323-328"xsd:string