| http://purl.uniprot.org/citations/16909394 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16909394 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16909394 | http://www.w3.org/2000/01/rdf-schema#comment | "Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for approximately 45% of LCA cases. We localized the genetic defect in a consanguineous LCA-affected family from Quebec and identified a splice defect in a gene encoding a centrosomal protein (CEP290). The defect is caused by an intronic mutation (c.2991+1655A-->G) that creates a strong splice-donor site and inserts a cryptic exon in the CEP290 messenger RNA. This mutation was detected in 16 (21%) of 76 unrelated patients with LCA, either homozygously or in combination with a second deleterious mutation on the other allele. CEP290 mutations therefore represent one of the most frequent causes of LCA identified so far."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.org/dc/terms/identifier | "doi:10.1086/507318"xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.org/dc/terms/identifier | "doi:10.1086/507318"xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Meitinger T."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Meitinger T."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Strom T.M."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Strom T.M."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Lopez I."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Lopez I."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Cremers F.P.M."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Cremers F.P.M."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Hoyng C.B."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Hoyng C.B."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Rohrschneider K."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Rohrschneider K."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "den Hollander A.I."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "den Hollander A.I."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "van den Born L.I."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "van den Born L.I."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Koenekoop R.K."xsd:string |
| http://purl.uniprot.org/citations/16909394 | http://purl.uniprot.org/core/author | "Koenekoop R.K."xsd:string |