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Lesch–Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA

✍ Scribed by Khue Vu Nguyen; Robert K. Naviaux; Kacie K. Paik; William L. Nyhan


Book ID
118507131
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
261 KB
Volume
106
Category
Article
ISSN
1096-7192

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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