Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).

Abstract excerpt

Fourteen T4-binding globulin (TBG) variants have been identified at the gene level. They are all located in the coding region of the gene and 6 produce complete deficiency of TBG (TBG-CD). We now describe the first mutation in a noncoding region producing TBG-CD. The proband was treated for over...

Topics

• Amino Acid Sequence
• Base Sequence
• DNA Transposable Elements
• DNA, Complementary
• DNA, Recombinant
• Female
• Frameshift Mutation
• Humans
• Male
• Middle Aged
• Mutation
• Pedigree