| http://purl.uniprot.org/citations/8485582 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8485582 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8485582 | http://www.w3.org/2000/01/rdf-schema#comment | "More than two hundred characterized 21-hydroxylase deficiency alleles appear to result exclusively from sequence exchanges involving the 21-hydroxylase gene (CYP21B) and a closely related pseudogene (CYP21A). Gene conversion-like events have also been reported in many other human gene clusters, but in the absence of a de novo mutation, the alternative explanation of a multiple recombination is possible. We now report a de novo pathological mutation at the 21-hydroxylase locus. DNA sequence analysis suggests that the mutation arose by a microconversion event involving exchange of up to 390 nucleotides between maternal CYP21A and CYP21B genes. This putative de novo gene conversion event appears to be the first characterized in humans."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0393-260"xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0393-260"xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/author | "Collier S."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/author | "Collier S."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/author | "Strachan T."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/author | "Strachan T."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/author | "Sinnott P."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/author | "Sinnott P."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/author | "Tassabehji M."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/author | "Tassabehji M."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/pages | "260-265"xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/pages | "260-265"xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/title | "A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/title | "A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome."xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/volume | "3"xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://purl.uniprot.org/core/volume | "3"xsd:string |
| http://purl.uniprot.org/citations/8485582 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8485582 |
| http://purl.uniprot.org/citations/8485582 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8485582 |