| http://purl.uniprot.org/citations/11379879 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11379879 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11379879 | http://www.w3.org/2000/01/rdf-schema#comment | "Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal diseases leading to blindness. By performing full genome linkage analysis in a consanguineous French family affected with severe autosomal recessive RP, we have excluded linkage to known loci involved in RP and mapped a novel locus to chromosome 16q13-q21 (Zmax=2.83 at theta=0 at the D16S3089 locus). Two candidate genes KIFC3 and CNGB1 mapping to this critical interval have been screened for mutations. The CNGB1 gene, which encodes the beta-subunit of the rod cGMP-gated channel, is mutated in the family presented in this study."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390100496"xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390100496"xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Demaille J."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Demaille J."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Delague V."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Delague V."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Hamel C.P."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Hamel C.P."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Claustres M."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Claustres M."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Arnaud B."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Arnaud B."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Bareil C."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/author | "Bareil C."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/pages | "328-334"xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/pages | "328-334"xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/title | "Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa."xsd:string |
| http://purl.uniprot.org/citations/11379879 | http://purl.uniprot.org/core/title | "Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa."xsd:string |