Article
A truncated thyroxine-binding globulin due to a frameshift mutation is retained within the rough endoplasmic reticulum: a possible mechanism of complete thyroxine-binding globulin deficiency in Japanese.
The Journal of clinical endocrinology and metabolism - 1 Feb 1994
Miura Y, Kambe F, Yamamori I, Mori Y, Tani Y, Murata Y, Oiso Y, Seo H
Abstract excerpt
We have previously reported six unrelated Japanese families having the same mutation in the TBG gene and manifesting complete TBG deficiency (TBG-CDJ). The deficiency consists of a single nucleotide deletion resulting in the production of C-terminal truncation due to a frameshift and premature termination. However, the reason for the failure to detect TBG in the serum of subjects harboring this mutation remains...
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