Transthyretin mutations in health and disease.

Abstract excerpt

To date, over 40 different mutations in transthyretin (TTR) have been associated with amyloid deposition. The major unresolved problem is the correlation between the clinical heterogeneity and the genetic heterogeneity. For instance, whereas some mutations produce neuropathy and some give rise to cardiomyopathy, others produce vitreous opacities, the vast majority being neuropathic. Moreover, some mutations are...

Topics

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

• Share to Chromosomes, Human, Pair 18
• Share to Gene Frequency
• Share to Amyloidosis