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High Activities of Erythrocyte Glutathione Peroxidase in Patients with the Lesch-Nyhan Syndrome

โœ Scribed by DIDRIK SAUGSTAD, OLA ;MARKLUND, STEFAN L.

Book ID
114694865
Publisher
Wiley (Blackwell Publishing)
Year
2009
Weight
296 KB
Volume
224
Category
Article
ISSN
0001-6101

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## Communicated by C. Thomas Caskey We have identified the mutations in the hypoxanthine phosphoribosyltransferase (hprt) gene in five patients with the Lesch Nyhan syndrome (LN) by direct sequencing of hprt cDNA and genomic DNA. Three of the mutations affect splicing of exons 1, 2, and 9, respec