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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Detaylı Bibliyografya
Asıl Yazarlar: Dianzani, I, Howells, D W, Ponzone, A, Saleeba, J A, Smooker, P M, Cotton, R G
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1993
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016417/
https://ncbi.nlm.nih.gov/pubmed/8326489
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