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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1982-3-13
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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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-102643,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-117241,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-13130792,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-14097352,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-30693,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-4137309,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-41656,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-429860,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-496890,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-503643,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-6101503,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7326033-810143
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0264-6021
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
198
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
677-82
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:7326033-Cells, Cultured,
pubmed-meshheading:7326033-Chemical Phenomena,
pubmed-meshheading:7326033-Chemistry,
pubmed-meshheading:7326033-Dihydropteridine Reductase,
pubmed-meshheading:7326033-Electrophoresis, Polyacrylamide Gel,
pubmed-meshheading:7326033-Female,
pubmed-meshheading:7326033-Fibroblasts,
pubmed-meshheading:7326033-Genetic Variation,
pubmed-meshheading:7326033-Humans,
pubmed-meshheading:7326033-Lymphocytes,
pubmed-meshheading:7326033-Male,
pubmed-meshheading:7326033-Mutation,
pubmed-meshheading:7326033-NADH, NADPH Oxidoreductases,
pubmed-meshheading:7326033-Phenotype,
pubmed-meshheading:7326033-Phenylketonurias,
pubmed-meshheading:7326033-Radioimmunoassay
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pubmed:year |
1981
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pubmed:articleTitle |
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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