Partial HGPRT-deficiency in a patient with the Lesch-Nyhan syndrome: Evidence for a structural mutation affecting the PRPP binding site

A germ line mutation within the coding s

A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease

✍ Shin Fujimori; Tetsuo Tagaya; Naoyuki Kamatani; Ieo Akaoka 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 529 KB

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