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Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene.

L-D ChenHuijie LuY-L GanS-W PangQ ZhengD-M YeX-Y HuangH-N QiW-B XuX-Z WenL-H LiLiang Li
Published in: Journal of endocrinological investigation (2020)
Associated with partial thyroxine-binding globulin deficiency, this study reports a novel p.A27V mutation in the TBG gene.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • dna binding
  • replacement therapy
  • binding protein
  • gene expression
  • dna methylation
  • transcription factor