Functional and Metabolic Studies of Platelets from Patients with Lesch-Nyhan Syndrome
โ Scribed by Georges E. Rivard; Parvin Izadi; Jack Lazerson; John D. McLaren; Charles Parker; Charles H. Fish
- Book ID
- 114708223
- Publisher
- John Wiley and Sons
- Year
- 1975
- Tongue
- English
- Weight
- 592 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0007-1048
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Human lymphoblasts derived from normal and hypoxanthine-guanine phos-phoribosyItransferase (HGPRT) deficient individuals have been maintained in permanent tissue culture, and comparative studies of their purine metabolism have been undertaken. In agreement with previous observations in fibroblasts,
## Communicated by C. Thomas Caskey We have identified the mutations in the hypoxanthine phosphoribosyltransferase (hprt) gene in five patients with the Lesch Nyhan syndrome (LN) by direct sequencing of hprt cDNA and genomic DNA. Three of the mutations affect splicing of exons 1, 2, and 9, respec