Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome

Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome

The Lesch-Nyhan syndrome is characterized clinically by choreoathetosis, spasticity, selfmutilation, and mental and growth retardation. Biochemically, there is a striking reduction of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in affected individuals. We have examined erythrocyt...

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Главные авторы:	William J. Arnold, Jean C. Meade, William N. Kelley
Формат:	Artigo
Язык:	английский
Опубликовано:	1972
Online-ссылка:	https://doi.org/10.1172/jci106982 http://www.jci.org/articles/view/106982/files/pdf
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