A Novel Mutation in HPRT1 Gene Causing Variant Form of Lesch-Nyhan Disease
✍ Scribed by Borlot, Felippe; Aquino, Camila C.; Zoratti, Sandra R.B.R.; de Araújo, Juliana D.; Kulikowski, Leslie D.; Kim, Chong A.
- Book ID
- 121891799
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 401 KB
- Volume
- 49
- Category
- Article
- ISSN
- 0887-8994
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📜 SIMILAR VOLUMES
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
Lesch-Nyhan syndrome caused by a complete deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT) is the result of a heterogeneous group of germ line mutations. Identification of each mutant gene provides valuable information as to the type of mutation that occurs spontaneously. We repor