Publications by authors named "Yu-Ren Mike Huang"
Article Synopsis
- Cystine stones are a genetic condition linked to mutations in the SLC3A1 or SLC7A9 genes, and this study explored the genetic prevalence compared to clinical reports.
- Researchers analyzed genetic variants from the 1000 Genomes project and the Human Gene Mutation Database, identifying 9 SLC3A1 and 5 SLC7A9 pathogenic variants among carriers, estimating a genetic prevalence of 1 in 30,585.
- The study found that the clinical prevalence of cystine stones is higher at 1 in 7,000, indicating that the disease's causes may involve more factors than just genetics, such as undiscovered mutations and environmental influences.
