Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 2.

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Fig. 2. A pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother, which is causative for LND. HPRT1, hypoxanthine-guanine phosphoribosyltransferase; LND, Lesch-Nyhan disease.
Journal of Genetic Medicine 2022;19:94-9
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