| http://purl.uniprot.org/citations/18259096 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18259096 | http://www.w3.org/2000/01/rdf-schema#comment | "AimsTo evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies.MethodsThe coding sequence of the TGFBI gene was analysed in 22 affected Czech individuals from 7 apparently unrelated families. Comparison of phenotype to genotype was performed.ResultsA H626P mutation, previously only described in a family with a variant of lattice corneal dystrophy (LCD), was detected in one family with superficial geographic corneal opacities. Light microscopy of 2 samples obtained following either a prior superficial keratectomy or keratoplasty showed amyloid but no fuchsinophilic deposits. In a family with LCD type I, an R124C mutation was identified. The R124L mutation was shown to be causative of Reis-Bucklers corneal dystrophy in 2 families. A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation. In 2 families with granular corneal dystrophy type I, the typical R555W change was identified.ConclusionThe phenotype of the family with the H626P mutation differed from the phenotype previously reported for this change."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.org/dc/terms/identifier | "doi:10.1159/000115325"xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/author | "Bhattacharya S.S."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/author | "Klintworth G.K."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/author | "Hardcastle A.J."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/author | "Tuft S.J."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/author | "Ebenezer N.D."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/author | "Filipec M."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/author | "Liskova P."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/author | "Jirsova K."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/author | "Bowling B.L."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/name | "Ophthalmic Res"xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/pages | "105-108"xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/title | "Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families."xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://purl.uniprot.org/core/volume | "40"xsd:string |
| http://purl.uniprot.org/citations/18259096 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18259096 |
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| http://purl.uniprot.org/uniprot/#_Q53GU8-mappedCitation-18259096 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18259096 |
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