Article
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.
Human mutation - 1 Jan 1993
Marcus S, Christensen E, Malm G
Abstract excerpt
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, respectively, while two are missense mutations in exons 3 and 8. All 5 mutations result in profound hprt deficiency as measured in fibroblast lysates. However,...
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