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Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
Two new mutations have been identified within the dihydropteridine reductase (DHPR) gene in two patients with DHPR deficiency. The total coding sequence of the cDNA has been screened by chemical cleavage of mismatch in both patients and selected portions of the cDNA have been sequenced. The first mu...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Med Genet |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Publishing Group
1993
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016417/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8326489/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.6.465 |
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