A novel variant mutation of transthyretin Ile73Val-related amyloidotic polyneuropathy in Taiwanese.

Abstract excerpt

PURPOSE: Familial amyloidotic polyneuropathy (FAP) is an inherited disease caused by deposition of mutant amyloid proteins in the peripheral nerves. Abnormal transthyretin (TTR) accounts for protein aggregation in the majority of FAP. Val30Met is the most common TTR gene-mutation reported in different ethnic populations. In Taiwan, Ala97Ser mutation is probably a major hot-spot of TTR mutations. On the other...

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