| http://purl.uniprot.org/citations/24728566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24728566 | http://www.w3.org/2000/01/rdf-schema#comment | "Cataract, defined as any opacity of the crystallin lens, can be divided into early onset (congenital or infantile) and age-related. It is the leading cause of visual disability in children, and mutations in many genes have currently been linked with this disorder. In the present study, we identified a genetic defect in a Chinese family with congenital cataract. Genomic DNA was extracted from the venous blood of the family and 100 normal controls. To screen for the disease-causing mutation, we sequenced eight candidate genes, and to predict the functional consequences of the mutation, a structural model of the protein was developed using the Protein Data Bank and PyMOL 1.1r1. We found a novel variant (c.163 A > G transition) in the gene for gap junction protein α3, or the connexin46 gene. This mutation resulted in the substitution of a highly conserved asparagine at codon 55 by aspartic acid (p.N55D). There were no nucleotide polymorphisms in the other candidate genes sequenced."xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.org/dc/terms/identifier | "doi:10.1007/s11033-014-3346-8"xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/author | "Feng Y."xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/author | "Gao L."xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/author | "Hu Y."xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/author | "Huang S."xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/author | "Shao Z."xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/author | "Yang T."xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/author | "Yuan H."xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/name | "Mol Biol Rep"xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/pages | "4753-4758"xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/title | "Identification of a novel mutation of the gene for gap junction protein alpha3 (GJA3) in a Chinese family with congenital cataract."xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://purl.uniprot.org/core/volume | "41"xsd:string |
| http://purl.uniprot.org/citations/24728566 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24728566 |
| http://purl.uniprot.org/citations/24728566 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24728566 |
| http://purl.uniprot.org/uniprot/#_A0A1B1PFX4-mappedCitation-24728566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24728566 |
| http://purl.uniprot.org/uniprot/#_A0A1B1PFX6-mappedCitation-24728566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24728566 |
| http://purl.uniprot.org/uniprot/#_A0A140CTW5-mappedCitation-24728566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24728566 |
| http://purl.uniprot.org/uniprot/#_A0A140CTW6-mappedCitation-24728566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24728566 |
| http://purl.uniprot.org/uniprot/#_A0A140CTW7-mappedCitation-24728566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24728566 |
| http://purl.uniprot.org/uniprot/#_A0A140CTW8-mappedCitation-24728566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24728566 |
| http://purl.uniprot.org/uniprot/#_A0A1B3B2J5-mappedCitation-24728566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24728566 |
| http://purl.uniprot.org/uniprot/#_A0A1B3B2J9-mappedCitation-24728566 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24728566 |