Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

Abstract excerpt

Homocystinuria is an autosomal recessive inborn error of metabolism that is most often caused by mutation in the cystathionine beta-synthase (CBS) gene. Patients may develop serious clinical manifestations such as lens dislocation, mental retardation, osteoporosis, and atherothrombotic vascular disease. Over 100 mutations have been reported, but so far, none have been reported in Korea. Mutation analysis of the...

Topics

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

• Share to NIH 3T3 Cells
• Share to Chlorocebus aethiops