Article
Transthyretin mutations in hyperthyroxinemia and amyloid diseases.
Human mutation - 1 Jun 2001
Saraiva M J
Abstract excerpt
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...
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