Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.

Deficiency of human dihydropteridine reductase (hDHPR) causes malignant hyperphenylalaninemia. We report the isolation of a cDNA clone for hDHPR that spans the complete coding region, and present the nucleotide sequence and the predicted amino acid sequence. The hDHPR protein does not share extensiv...

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Bibliografiska uppgifter
I publikationen:Nucleic Acids Res
Huvudupphovsmän: Dahl, H H, Hutchison, W, McAdam, W, Wake, S, Morgan, F J, Cotton, R G
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 1987
Länkar:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC340608/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3031582/
https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/15.5.1921
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