| http://purl.uniprot.org/citations/19390132 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19390132 | http://www.w3.org/2000/01/rdf-schema#comment | "The Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive disorder associated with multiple developmental malformations, is caused by a large spectrum of mutations in the DHCR7 gene. Mutations in the DHCR7 gene lead to a 7-dehydrocholesterol reductase deficiency, which is the final enzyme in the pathway of the cholesterol biosynthesis. Reduced cholesterol levels and elevated concentrations of its precursor 7-dehydrocholesterol in plasma and tissues are the major biochemical hallmarks of this disorder. In all patients a biochemical analysis of blood sterols using the gas chromatography/mass spectrometry was performed to confirm the clinical diagnosis of SLOS. We have also determined the mutational spectrum of DHCR7 gene in 17 Slovak patients. We identified six different mutations: nonsense mutation W151X and missense mutations V326L, L109P, G410S, R352Q, Y432C. Mutations W151X and V326L accounted for 76% of the SLOS alleles in Slovak population. The Slovak mutational spectrum is similar to that observed in other Central European countries. We also report simple polymerase chain reaction (PCR)-based assays that allow efficient and rapid mutation analysis."xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/author | "Durovcikova D."xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/author | "Chandoga J."xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/author | "Petrovic R."xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/author | "Turcani P."xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/author | "Futas J."xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/author | "Kolejakova K."xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/name | "Gen Physiol Biophys"xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/pages | "8-15"xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/title | "Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays."xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://purl.uniprot.org/core/volume | "28"xsd:string |
| http://purl.uniprot.org/citations/19390132 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19390132 |
| http://purl.uniprot.org/citations/19390132 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/19390132 |
| http://purl.uniprot.org/uniprot/#_A0A024R5F7-mappedCitation-19390132 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19390132 |
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| http://purl.uniprot.org/uniprot/#_X5DRD7-mappedCitation-19390132 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/19390132 |