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Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome.
Tvrdik T, Marcus S, Hou SM, Fält S, Noori P, Podlutskaja N, Hanefeld F, Strømme P, Lambert B. Tvrdik T, et al. Among authors: podlutskaja n. Hum Genet. 1998 Sep;103(3):311-8. doi: 10.1007/s004390050822. Hum Genet. 1998. PMID: 9799086