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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...

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Bibliografski detalji
Izdano u:J Med Genet
Glavni autori: Dianzani, I, Howells, D W, Ponzone, A, Saleeba, J A, Smooker, P M, Cotton, R G
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 1993
Teme:
Online pristup: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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