| http://purl.uniprot.org/citations/1427912 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1427912 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1427912 | http://www.w3.org/2000/01/rdf-schema#comment | "Using single-strand conformation polymorphism electrophoresis, heteroduplex analysis, and direct sequencing, we have searched for possible disease-causing mutations in the adRP family in which we originally found tight linkage of the disease to 6p. We have now identified a single base change in exon 2, which results in the replacement of a serine residue at codon 212 for a glycine residue. The mutation cosegregates with the disease with a lod score of 12.1 at theta = 0.0."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0888-7543(05)80193-4"xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0888-7543(05)80193-4"xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Farrar G.J."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Farrar G.J."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Humphries P."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Humphries P."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Humphries M.M."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Humphries M.M."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Jordan S.A."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Jordan S.A."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Kumar-Singh R."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Kumar-Singh R."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Sheils D.M."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Sheils D.M."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Kenna P."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Kenna P."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Sharp E.M."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/author | "Sharp E.M."xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/1427912 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |