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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Argitaratua izan da:	J Clin Invest
Egile Nagusiak:	Davidson, B L, Tarlé, S A, Palella, T D, Kelley, W N
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	American Society for Clinical Investigation 1989
Gaiak:	Research Article
Sarrera elektronikoa:	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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