Article
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.
Human genetics - 1 Dec 1992
Fujimori S, Tagaya T, Kamatani N, Akaoka I
Abstract excerpt
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 report here a newly identified HPRT mutation in a Japanese patient with Lesch-Nyhan syndrome. This gene, designated HPRT...
Topics
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- Blotting, Western
- Cell Line
- DNA, Single-Stranded
- Female
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Japan