A Novel Mutation in the < b > < i > TBG < /i > < /b > Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families

Conclusions: We report a novel mutation in theTBG gene in 2 unrelated families that produces a molecule with reduced affinity for T4 resulting in low serum T4. However, the physical properties of the mutant molecule remained unaltered as determined by isoelectric focusing.Eur Thyroid J
Source: European Thyroid Journal - Category: Endocrinology Source Type: research