Disease-causing mutations or functional polymorphisms?

Abstract excerpt

Molecular genetics has infiltrated all medical disciplines and particularly the field of neuromuscular diseases. Scientists use genetic techniques who may not always aware of their restrictions and potential pitfalls. Particularly the genetic distinction between disease-causing mutations and "benign" polymorphisms can be difficult because the current standard criteria are not sufficient. Here a recently developed...

Topics

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

• Share to Algorithms
• Share to Hypokalemic Periodic Paralysis
• Share to Mutation