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Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype

✍ Scribed by Z Gucev; S Koceva; A Marinaki; L Fairbanks; I Kirovski; V Tasic


Book ID
110889036
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
504 KB
Volume
78
Category
Article
ISSN
0009-9163

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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