Hereditary Orotic Aciduria: Evidence for a Structural Gene Mutation

Orotic aciduria is a rare autosomal recessive disease in man due to a deficiency of orotate phosphoribosyltransferase (EC 2.4.2.10; orotidine-5′-phosphate:pyrophosphate phosphoribosyltransferase) and orotidine-5′-phosphate decarboxylase (EC 4.1.1.23; orotidine-5′-phosphate carboxy-lyase). We have co...

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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Worthy, Thomas E., Grobner, Wolfgang, Kelley, William N.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1974
Fag:
Biological Sciences: Medical Sciences
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC388614/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4528586/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.71.8.3031
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