| http://purl.uniprot.org/citations/11746135 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11746135 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11746135 | http://www.w3.org/2000/01/rdf-schema#comment | "The great majority of genetic defects underlying steroid 21-hydroxylase deficiency appear to result from intergenic recombinations between the homologous CYP21 and CYP21P genes. For a minority, novel sporadic point mutations have been detected. De novo mutations in CYP21 have also been reported, but only a few studies have systematically screened their occurrence. We here describe a population-based patient sample in order to estimate the rate of single-family (i.e. sporadic) and de novo germline mutations in the human CYP21 locus. Among 76 Finnish families were observed three single-family mutations and two de novo mutations in CYP21. The rates obtained, approximately 5% and approximately 2% for novel and de novo mutations, respectively, indicate that they are not rare and that their occurrence should not be ignored in genetic diagnostics of this disorder."xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.org/dc/terms/identifier | "doi:10.1002/pd.167"xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.org/dc/terms/identifier | "doi:10.1002/pd.167"xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/author | "Partanen J."xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/author | "Partanen J."xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/author | "Levo A."xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/author | "Levo A."xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/name | "Prenat. Diagn."xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/name | "Prenat. Diagn."xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/pages | "885-889"xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/pages | "885-889"xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/title | "Novel mutations in the human CYP21 gene."xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/title | "Novel mutations in the human CYP21 gene."xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/volume | "21"xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://purl.uniprot.org/core/volume | "21"xsd:string |
| http://purl.uniprot.org/citations/11746135 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11746135 |
| http://purl.uniprot.org/citations/11746135 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11746135 |
| http://purl.uniprot.org/citations/11746135 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11746135 |
| http://purl.uniprot.org/citations/11746135 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11746135 |
| http://purl.uniprot.org/uniprot/P08686 | http://purl.uniprot.org/core/citation | http://purl.uniprot.org/citations/11746135 |
| http://purl.uniprot.org/uniprot/P08686#attribution-7428149ADF15EB73510D728F93C20110 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/11746135 |