Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.

Abstract excerpt

As we identify more and more genetic changes, either through mutation studies or population screens, we need powerful tools to study their potential molecular effects. With these tools, we can begin to understand the contributions of genetic variations to the wide range of human phenotypes. We used our catalogue of molecular changes in patients with carbamyl phosphate synthetase I (CPSI) deficiency to develop...

Topics

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

• Share to Alternative Splicing
• Share to Blotting, Northern