Article
A novel missense mutation in codon 218 of the albumin gene in a distinct phenotype of familial dysalbuminemic hyperthyroxinemia in a Japanese kindred.
The Journal of clinical endocrinology and metabolism - 1 Oct 1997
Wada N, Chiba H, Shimizu C, Kijima H, Kubo M, Koike T
Abstract excerpt
Familial dysalbuminemic hyperthyroxinemia (FDH) is the most common cause of inherited euthyroid hyperthyroxinemia in Caucasians. To our knowledge, no such documentation on Asians exists. Six of 8 members of a 3-generation Japanese family were found by us to carry the FDH phenotype. Serum total T4 levels ranged from 1763.2-2741.3 nmol/L (normal range, 65.6-164.7), serum total T3 levels ranged from 2.73-5.62 nmol/L...
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