Article
Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed - 1 Dec 1995
Lee W J, Lee H M, Chi C S, Yang M T, Lin H Y, Lin W H
Abstract excerpt
BACKGROUND: The Lesch-Nyhan syndrome is an X-linked recessive inherited disease caused by a complete deficiency of hypoxanthine guanine phosphoribosyl-transferase (HPRT) activity. Many different mutations throughout the HPRT coding region of Lesch-Nyhan patients have been described, including sin...
Topics
- Base Sequence
- Child, Preschool
- Family Health
- Female
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Infant
- Lesch-Nyhan Syndrome
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Taiwan