| http://purl.uniprot.org/citations/9503029 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9503029 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9503029 | http://www.w3.org/2000/01/rdf-schema#comment | "Stargardt disease, an autosomal recessive macular dystrophy of childhood, leading to severe visual impairment, is caused by mutations in the retina-specific ATP binding transporter gene (ABCR). Previously, the ABCR cDNA and part of the exon-intron structure were described. We have determined the complete ABCR exon-intron structure by exon-exon PCR. The ABCR gene encompasses 50 exons, 29 of which are first described here with their corresponding intron-exon boundaries. The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1997.5164"xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1997.5164"xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Blankenagel A."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Blankenagel A."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Cremers F.P.M."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Cremers F.P.M."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Gerber S."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Gerber S."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Hoyng C.B."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Hoyng C.B."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Kaplan J."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Kaplan J."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Rozet J.-M."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "Rozet J.-M."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "van de Pol T.J.R."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/author | "van de Pol T.J.R."xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/9503029 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |