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Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency

✍ Scribed by I. Willers; H. Bolz; M. Wehnert; A. Gal


Book ID
110225525
Publisher
Springer
Year
1999
Tongue
English
Weight
34 KB
Volume
22
Category
Article
ISSN
0141-8955

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Lesch-Nyhan (LN) disease is a severe X-linked recessive neurological disorder associated with a loss of hypoxanthine guanine phosphoribosyltransferase activity (HPRT, EC 2.4.2.8). We have studied the second example of a female patient with LN disease. The molecular basis of HPRT deficiency in this p