| pubmed-article:17164306 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17164306 | lifeskim:mentions | umls-concept:C0680063 | lld:lifeskim |
| pubmed-article:17164306 | lifeskim:mentions | umls-concept:C0026591 | lld:lifeskim |
| pubmed-article:17164306 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:17164306 | lifeskim:mentions | umls-concept:C1413861 | lld:lifeskim |
| pubmed-article:17164306 | lifeskim:mentions | umls-concept:C0220898 | lld:lifeskim |
| pubmed-article:17164306 | lifeskim:mentions | umls-concept:C0332597 | lld:lifeskim |
| pubmed-article:17164306 | lifeskim:mentions | umls-concept:C1515568 | lld:lifeskim |
| pubmed-article:17164306 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:17164306 | pubmed:dateCreated | 2007-3-7 | lld:pubmed |
| pubmed-article:17164306 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17164306 | pubmed:abstractText | Although CYP21A2 de novo mutations are assumed to account for 1 to 2% of congenital adrenal hyperplasia (CAH) alleles and CYP21 genotyping has been done worldwide, there are only a few well-documented cases of CYP21A2 de novo mutations. The majority of these are deletions resulting from unequal crossings over owing to misalignment of homologous chromosomes during meiosis. Whereas so far, only heterozygous deletions of the CYP21A1P pseudogene were seen as premutations for de novo aberrations, the present report addresses such a predisposing role for parental duplicated CYP21A2 genes. | lld:pubmed |
| pubmed-article:17164306 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17164306 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17164306 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:17164306 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17164306 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17164306 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:17164306 | pubmed:issn | 0021-972X | lld:pubmed |
| pubmed-article:17164306 | pubmed:author | pubmed-author:FischerGG | lld:pubmed |
| pubmed-article:17164306 | pubmed:author | pubmed-author:VierhapperHH | lld:pubmed |
| pubmed-article:17164306 | pubmed:author | pubmed-author:Baumgartner-P... | lld:pubmed |
| pubmed-article:17164306 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17164306 | pubmed:volume | 92 | lld:pubmed |
| pubmed-article:17164306 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17164306 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17164306 | pubmed:pagination | 1164-7 | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:meshHeading | pubmed-meshheading:17164306... | lld:pubmed |
| pubmed-article:17164306 | pubmed:year | 2007 | lld:pubmed |
| pubmed-article:17164306 | pubmed:articleTitle | Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene. | lld:pubmed |
| pubmed-article:17164306 | pubmed:affiliation | Department of Internal Medicine III, Division of Endocrinology and Metabolism, Waehringer Guertel 18-20, A-1090 Vienna, Austria. sabina.baumgartner-parzer@meduniwien.ac.at | lld:pubmed |
| pubmed-article:17164306 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17164306 | pubmed:publicationType | Case Reports | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:17164306 | lld:pubmed |
