Article
A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel.
The Journal of clinical endocrinology and metabolism - 1 Oct 2000
Miura Y, Hershkovitz E, Inagaki A, Parvari R, Oiso Y, Phillip M
Abstract excerpt
T4-binding globulin (TBG) is the major thyroid hormone transport protein in human serum. Inherited TBG abnormalities do not usually alter the metabolic status and are transmitted in X-linked inheritance. A high prevalence of complete TBG deficiency (TBG-CD) has been reported among the Bedouin population in the Negev (southern Israel). In this study we report a novel single mutation causing complete TBG deficiency...
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