A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.

@article{Ferrara2015ANM,
  title={A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.},
  author={Alfonso Massimiliano Ferrara and Theodora Pappa and Jiao Fu and Christopher D. Brown and April L Peterson and Lars Christian Moeller and Kathleen Louise Wyne and Kevin P. White and A. D. Pluzhnikov and Vassily Trubetskoy and Marcelo F. Nobrega and R E Weiss and Alexandra Mihaela Dumitrescu and Samuel Refetoff},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2015},
  volume={100 1},
  pages={E173-81}
}
CONTEXT T4-binding globulin (TBG), a protein secreted by the liver, is the main thyroid hormone (TH) transporter in human serum. TBG deficiency is characterized by reduced serum TH levels, but normal free TH and TSH and absent clinical manifestations. The inherited form of TBG deficiency is usually due to a mutation in the TBG gene located on the X-chromosome. OBJECTIVE Among the 75 families with X-chromosome-linked TBG deficiency identified in our laboratory, no mutations in the TBG gene… CONTINUE READING
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