A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

We characterized 24 unrelated patients with a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) in an attempt to better understand the nature and spectrum of mutations that underlie this prototype-inherited disease. Lymphoblast cell lines derived from each patient were a...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Wilson, J M, Stout, J T, Palella, T D, Davidson, B L, Kelley, W N, Caskey, C T
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1986
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC423326/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3944251/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI112275
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