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

Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). J Clin Endocrinol Metab. 1998 Oct; 83(10):3604-8.

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subject areas

Amino Acid Sequence
Base Sequence
DNA Transposable Elements
DNA, Complementary
DNA, Recombinant
Female
Frameshift Mutation
Humans
Male
Middle Aged
Mutation
Pedigree
Protein Biosynthesis
Thyroid Function Tests
Thyroxine-Binding Proteins

authors with profiles

Samuel Refetoff
Roy Emanuel Weiss