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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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| Pubblicato in: | Nucleic Acids Res |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
1987
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| Accesso online: | 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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