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Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations

✍ Scribed by A. Jurecka; E. Popowska; A. Tylki-Szymanska; J. Kubalska; E. Ciara; Z. Krumina; J. Sykut-Cegielska; E. Pronicka

Publisher
Springer
Year
2008
Tongue
English
Weight
101 KB
Volume
31
Category
Article
ISSN
0141-8955

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The Lesch-Nyhan syndrome is a severe X chromosome-linked human disease caused by a virtual absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity. A partial deficiency in the activity of this enzyme can result in gouty arthritis. To determine the genetic basis for reduction or los