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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism. Mutant HPRT gene sequences from patients deficient in enzyme activity have previously been characterized by cDNA cloning or amino acid sequencing techniques. The presence of HPRT-specific mRNA i...

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Библиографические подробности
Опубликовано в: :J Clin Invest
Главные авторы: Davidson, B L, Tarlé, S A, Palella, T D, Kelley, W N
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 1989
Предметы:
Online-ссылка:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303988/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2738157/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114160
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