Article
Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
Human gene therapy - 20 Aug 1996
Redhead N J, Selfridge J, Wu C L, Melton D W
Abstract excerpt
Deficiencies in different steps of purine metabolism give rise to a number of human inherited disorders. Lesch-Nyhan syndrome is a severe neurological disorder, caused by a deficiency in the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). HPRT-deficient mice have been generat...
Topics
- Adenine
- Adenine Phosphoribosyltransferase
- Alleles
- Allopurinol
- Animals
- Blotting, Southern
- Chromatography, High Pressure Liquid
- Cloning, Molecular
- Crystallization
- Disease Models, Animal
- Genotype
- Humans
- Hypoxanthine
- Kidney
- Lesch-Nyhan Syndrome
- Mice
- Mice, Transgenic
- Polymerase Chain Reaction