| pubmed-article:7326033 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7326033 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:7326033 | lifeskim:mentions | umls-concept:C1521991 | lld:lifeskim |
| pubmed-article:7326033 | lifeskim:mentions | umls-concept:C2936906 | lld:lifeskim |
| pubmed-article:7326033 | lifeskim:mentions | umls-concept:C1457869 | lld:lifeskim |
| pubmed-article:7326033 | lifeskim:mentions | umls-concept:C0019409 | lld:lifeskim |
| pubmed-article:7326033 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:7326033 | pubmed:dateCreated | 1982-3-13 | lld:pubmed |
| pubmed-article:7326033 | pubmed:abstractText | Radioimmunoassay, immunoprecipitation, affinity chromatography and two-dimensional gel electrophoresis were used to test cultured cells from three families with dihydropteridine reductase deficiency for a catalytically incompetent product of the mutant gene. No mutant enzyme was detected in one dihydropteridine reductase-deficient homozygote or in her parents. A second homozygote and both her parents had easily detectable concentrations of inactive mutant enzyme. In a third family one parent fitted into each of these categories. | lld:pubmed |
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| pubmed-article:7326033 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7326033 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7326033 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:7326033 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7326033 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7326033 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:7326033 | pubmed:issn | 0264-6021 | lld:pubmed |
| pubmed-article:7326033 | pubmed:author | pubmed-author:DanksD MDM | lld:pubmed |
| pubmed-article:7326033 | pubmed:author | pubmed-author:CottonR GRG | lld:pubmed |
| pubmed-article:7326033 | pubmed:author | pubmed-author:FirgairaF AFA | lld:pubmed |
| pubmed-article:7326033 | pubmed:author | pubmed-author:ChooK HKH | lld:pubmed |
| pubmed-article:7326033 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7326033 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:7326033 | pubmed:volume | 198 | lld:pubmed |
| pubmed-article:7326033 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7326033 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:7326033 | pubmed:pagination | 677-82 | lld:pubmed |
| pubmed-article:7326033 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:7326033 | pubmed:year | 1981 | lld:pubmed |
| pubmed-article:7326033 | pubmed:articleTitle | Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency. | lld:pubmed |
| pubmed-article:7326033 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7326033 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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