Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.

In past reports of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency a marked degree of molecular heterogeneity has been noted. We have previously described two apparently unrelated subjects with partial HPRT deficiency, G.S. and D.B., who have a mutant form of HPRT with remarkably si...

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Pubblicato in:	J Clin Invest
Autori principali:	Davidson, B L, Chin, S J, Wilson, J M, Kelley, W N, Palella, T D
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1988
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC442801/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3198771/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113839
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