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  • Title: Transthyretin mutations in hyperthyroxinemia and amyloid diseases.
    Author: Saraiva MJ.
    Journal: Hum Mutat; 2001 Jun; 17(6):493-503. PubMed ID: 11385707.
    Abstract:
    Over 80 different disease-causing mutations in transthyretin (TTR) have been reported. The vast majority are inherited in an autosomal dominant manner and are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart. A small portion of TTR mutations are apparently non-amyloidogenic. Among these are mutations responsible for hyperthyroxinemia, presenting high affinity for thyroxine (a TTR ligand). Compound heterozygotic individuals for TTR mutants have been described; noteworthy is the clinically protective effect exerted by a non-pathogenic over a pathogenic mutation. Current TTR mutations and their significance are briefly reviewed here.
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