| http://purl.uniprot.org/citations/19420818 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19420818 | http://www.w3.org/2000/01/rdf-schema#comment | "We report two Japanese women with androgen excess symptoms. Analyses of 21-hydroxylase gene demonstrated that a 24-year-old Japanese woman had a homozygous mutation of IVS2-13 A/C>G, while a 25-year-old Japanese woman had a compound heterozygous mutation of I172N and E245del1nt, a novel mutation which would result in completely nonfunctional enzyme due to a frame shift. As IVS2-13 A/C>G and I172N have been classified as mutations leading to severe impairment in enzyme activity, this study not only clarified a novel mutation causing 21-hydroxylase deficiency, but also demonstrated that genotype and phenotype do not correlate well in these cases."xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.org/dc/terms/identifier | "doi:10.2169/internalmedicine.48.1894"xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/author | "Homma K."xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/author | "Sato I."xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/author | "Umeda H."xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/author | "Usui T."xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/author | "Arima H."xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/author | "Kusakabe M."xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/author | "Oiso Y."xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/author | "Imamine R."xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/name | "Intern Med"xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/pages | "705-709"xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/title | "Genetic analysis of two Japanese patients with non-classical 21-hydroxylase deficiency."xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://purl.uniprot.org/core/volume | "48"xsd:string |
| http://purl.uniprot.org/citations/19420818 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19420818 |
| http://purl.uniprot.org/citations/19420818 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/19420818 |
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