| http://purl.uniprot.org/citations/25374402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25374402 | http://www.w3.org/2000/01/rdf-schema#comment | "Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by capillary malformation (port-wine stains), and choroidal and leptomeningeal vascular malformations. Previously, the recurrent somatic mutation c.548G>A (p.R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS and non-syndromic port-wine stain patients using whole-genome sequencing. In this study, we investigated somatic mutations in GNAQ by next-generation sequencing. We first performed targeted amplicon sequencing of 15 blood-brain-paired samples in sporadic SWS and identified the recurrent somatic c.548G>A mutation in 80% of patients (12 of 15). The percentage of mutant alleles in brain tissues of these 12 patients ranged from 3.6 to 8.9%. We found no other somatic mutations in any of the seven GNAQ exons in the remaining three patients without c.548G>A. These findings suggest that the recurrent somatic GNAQ mutation c.548G>A is the major determinant genetic factor for SWS and imply that other mutated candidate gene(s) may exist in SWS."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.org/dc/terms/identifier | "doi:10.1038/jhg.2014.95"xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/author | "Arai H."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/author | "Kato M."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/author | "Nakashima M."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/author | "Matsumoto N."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/author | "Miyake N."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/author | "Iimura Y."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/author | "Saitsu H."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/author | "Tsurusaki Y."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/author | "Sugano H."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/author | "Miyajima M."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/name | "J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/pages | "691-693"xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/title | "The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome."xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://purl.uniprot.org/core/volume | "59"xsd:string |
| http://purl.uniprot.org/citations/25374402 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/25374402 |
| http://purl.uniprot.org/citations/25374402 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/25374402 |
| http://purl.uniprot.org/uniprot/#_A0A024R240-mappedCitation-25374402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25374402 |
| http://purl.uniprot.org/uniprot/#_B7Z581-mappedCitation-25374402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25374402 |
| http://purl.uniprot.org/uniprot/#_G9FP35-mappedCitation-25374402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25374402 |
| http://purl.uniprot.org/uniprot/#_G9FP37-mappedCitation-25374402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25374402 |
| http://purl.uniprot.org/uniprot/#_G9FP38-mappedCitation-25374402 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/25374402 |