| http://purl.uniprot.org/citations/23531866 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23531866 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23531866 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum logarithm of odds (LOD) score was 2.62 at a recombination fraction θ=0, obtained for marker D4S432 physically close to the Wolfram gene (WFS1). By sequencing the coding regions and intron-exon boundaries of WFS1, we identified a DNA substitution (c.1385A-to-G) in exon 8, causing a missense mutation at codon 462 (E462G) of the Wolframin protein. This is the first report of a mutation in this gene causing an isolated nuclear congenital cataract. These findings suggest that the membrane trafficking protein Wolframin may be important for supporting the developing lens."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2013.52"xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2013.52"xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Bhattacharya S.S."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Bhattacharya S.S."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Moore A.T."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Moore A.T."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Berry V."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Berry V."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Prescott D."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Prescott D."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Waseem N."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Waseem N."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Gregory-Evans C."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Gregory-Evans C."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Emmett W."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Emmett W."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Raby J."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/author | "Raby J."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/23531866 | http://purl.uniprot.org/core/name | "Eur. J. Hum. Genet."xsd:string |