The goal of this study is to investigate the prevalence of Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP) in a cohort of 500 subjects at risk for TTR-FAP, based on the subject's clinical presentation.
There is one SNP
It accounts several thousand cases worldwide, with Val30Met mutation identified in most patients and with endemic foci in Portugal, Sweden and Japan. --- Val30Met ---
The most common mutation in TTR-FAP is a replacement of valine by methionine (TTR V30M). --- V30M ---