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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Bibliographic Details
Published in:J Med Genet
Main Authors: Dianzani, I, Howells, D W, Ponzone, A, Saleeba, J A, Smooker, P M, Cotton, R G
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 1993
Subjects:
Research Article
Online Access: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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