| pubmed-article:18559916 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18559916 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:18559916 | lifeskim:mentions | umls-concept:C0019904 | lld:lifeskim |
| pubmed-article:18559916 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:18559916 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:18559916 | lifeskim:mentions | umls-concept:C0010762 | lld:lifeskim |
| pubmed-article:18559916 | lifeskim:mentions | umls-concept:C0030016 | lld:lifeskim |
| pubmed-article:18559916 | lifeskim:mentions | umls-concept:C0038302 | lld:lifeskim |
| pubmed-article:18559916 | lifeskim:mentions | umls-concept:C0011900 | lld:lifeskim |
| pubmed-article:18559916 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:18559916 | lifeskim:mentions | umls-concept:C0534137 | lld:lifeskim |
| pubmed-article:18559916 | pubmed:issue | 9 | lld:pubmed |
| pubmed-article:18559916 | pubmed:dateCreated | 2008-9-5 | lld:pubmed |
| pubmed-article:18559916 | pubmed:abstractText | Very few patients have been described with isolated 17,20-lyase deficiency who have had their mutations in P450c17 (17alpha-hydroxylase/17,20-lyase) proven by DNA sequencing and in vitro characterization of the mutations. Most patients with 17,20-lyase deficiency have mutations in the domain of P450c17 that interact with the electron-donating redox partner, P450 oxidoreductase (POR). | lld:pubmed |
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| pubmed-article:18559916 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18559916 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18559916 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:18559916 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18559916 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:18559916 | pubmed:issn | 0021-972X | lld:pubmed |
| pubmed-article:18559916 | pubmed:author | pubmed-author:MillerWalter... | lld:pubmed |
| pubmed-article:18559916 | pubmed:author | pubmed-author:HershkovitzEl... | lld:pubmed |
| pubmed-article:18559916 | pubmed:author | pubmed-author:WudyStefan... | lld:pubmed |
| pubmed-article:18559916 | pubmed:author | pubmed-author:HartmannMicha... | lld:pubmed |
| pubmed-article:18559916 | pubmed:author | pubmed-author:GomesLarissa... | lld:pubmed |
| pubmed-article:18559916 | pubmed:author | pubmed-author:ParvariRuthiR | lld:pubmed |
| pubmed-article:18559916 | pubmed:author | pubmed-author:LoewentalNeta... | lld:pubmed |
| pubmed-article:18559916 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:18559916 | pubmed:volume | 93 | lld:pubmed |
| pubmed-article:18559916 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18559916 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18559916 | pubmed:pagination | 3584-8 | lld:pubmed |
| pubmed-article:18559916 | pubmed:dateRevised | 2010-12-17 | lld:pubmed |
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| pubmed-article:18559916 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18559916 | pubmed:articleTitle | Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. | lld:pubmed |
| pubmed-article:18559916 | pubmed:affiliation | Pediatric Endocrinology and Metabolic Unit, Soroka University Medical Center, P.O. Box 151, Beer Sheva 84101, Israel. elih@bgu.ac.il | lld:pubmed |
| pubmed-article:18559916 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18559916 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:18559916 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:18559916 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
| entrez-gene:5447 | entrezgene:pubmed | pubmed-article:18559916 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:18559916 | lld:entrezgene |
