| http://purl.uniprot.org/citations/10746567 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10746567 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10746567 | http://www.w3.org/2000/01/rdf-schema#comment | "Stargardt disease is a recessively transmitted disease caused by mutations in the ABCR gene. Linkage disequilibrium has recently been reported between a polymorphism, 2828 A, and a common Western European founder mutation, 2588 C. Here, we confirm this linkage disequilibrium in a North American population. We also describe two complex alleles involving the 2828 A and 2588 C alterations and suggest a possible order of clinical severity of mutations identified in trans to the complex alleles. Finally, we report pseudodominance of Stargardt disease in a family with the 2588 C mutation, further supporting a high frequency of carriers for ABCR mutations in our population."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390051034"xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390051034"xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/author | "Lupski J.R."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/author | "Lupski J.R."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/author | "Lewis R.A."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/author | "Lewis R.A."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/author | "Shroyer N.F."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/author | "Shroyer N.F."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/pages | "244-248"xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/pages | "244-248"xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/title | "Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/title | "Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance."xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/volume | "106"xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://purl.uniprot.org/core/volume | "106"xsd:string |
| http://purl.uniprot.org/citations/10746567 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10746567 |
| http://purl.uniprot.org/citations/10746567 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10746567 |
| http://purl.uniprot.org/citations/10746567 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10746567 |
| http://purl.uniprot.org/citations/10746567 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/10746567 |