| http://purl.uniprot.org/citations/1406699 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1406699 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1406699 | http://www.w3.org/2000/01/rdf-schema#comment | "Steroid 21-hydroxylase deficiency is the leading cause of impaired cortisol synthesis in congenital adrenal hyperplasia (CAH), with the nonclassic form (NC) comprising approximately 1% of the Caucasian population. The structure of the CYP21 gene was studied in 13 unrelated NC-CAH patients, three affected siblings, and 55 blood donors using polymerase chain reaction. In addition to the Leu-281 and Leu-30 mutations previously associated with NC-CAH, the finding of a Pro-453 to Ser mutation in exon-10 of CYP21 in the NC-CAH patients is reported. Ser-453 was found in 46.2% of unrelated NC-CAH patients, but only 7.7% and 3.6% of salt-wasting CAH patients and blood donors, respectively. In contrast to the Leu-281 and Leu-30 mutations, Ser-453 has not been previously detected in the CYP21 pseudogene (CYP21P) and, therefore, has not likely arisen by gene conversion."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.org/dc/terms/identifier | "doi:10.1210/mend.6.8.1406699"xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.org/dc/terms/identifier | "doi:10.1210/mend.6.8.1406699"xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/author | "Sherman L."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/author | "Sherman L."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/author | "Azziz R."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/author | "Azziz R."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/author | "Ballard A.L."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/author | "Ballard A.L."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/author | "Owerbach D."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/author | "Owerbach D."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/name | "Mol. Endocrinol."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/name | "Mol. Endocrinol."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/pages | "1211-1215"xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/pages | "1211-1215"xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/title | "Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/title | "Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency."xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/volume | "6"xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://purl.uniprot.org/core/volume | "6"xsd:string |
| http://purl.uniprot.org/citations/1406699 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1406699 |
| http://purl.uniprot.org/citations/1406699 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1406699 |