𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Adenosine Transport in HPRT Deficient Lymphocytes from Lesch—Nyhan Disease Patients

✍ Scribed by R. J. Torres; I. DeAntonio; C. Prior; J. G. Puig

Publisher
John Wiley and Sons
Year
2005
Weight
8 KB
Volume
36
Category
Article
ISSN
0931-7597

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

For Abstract see ChemInform Abstract in Full Text.

📜 SIMILAR VOLUMES

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