Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Abstract excerpt

The germline mutation of the TSC1/2 gene in bilateral renal angiomyolipomas is unclear. Meanwhile, the mutation spectrum of Chinese TSC patients has not been revealed. We recruited 78 patients diagnosed with bilateral renal AMLs. High-throughput sequencing was used to detect any variants in TSC1/2 genes. The results showed that 28.6% of patients diagnosed before 45 were with positive results of TSC1/2 test. The...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to China
• Share to Genetic Association Studies