Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.

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 dihy...

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Hlavní autoři: Firgaira, F A, Choo, K H, Cotton, R G, Danks, D M
Médium: Artigo
Jazyk:Inglês
Vydáno: 1981
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1163317/
https://ncbi.nlm.nih.gov/pubmed/7326033
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