Article
Screening and biochemical characterization of transthyretin variants in the Portuguese population.
Human mutation - 1 Jan 1997
Alves I L, Altland K, Almeida M R, Winter P, Saraiva M J
Abstract excerpt
The study of pathogenic and nonpathogenic transthyretin (TTR) variants is very important for the understanding of such TTR-related diseases as hereditary amyloidosis and also to establish a relationship between the structure and function of the molecule. Variants with clinical manifestations can be easily detected, but clinically silent variants can be detected only by population screening programs using...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.