Article
In vivo Functional Consequences of Human THRA Variants Expressed in the Zebrafish.
Thyroid : official journal of the American Thyroid Association - 1 Feb 2017
Marelli Federica, Carra Silvia, Rurale Giuditta, Cotelli Franco, Persani Luca
Abstract excerpt
BACKGROUND: Heterozygous mutations in the thyroid hormone receptor alpha (THRA) gene cause resistance to thyroid hormone alpha (RTHα), a disease characterized by variable manifestations reminiscent of untreated congenital hypothyroidism but a raised triiodothyronine/thyroxine ratio and normal thyrotropin levels. It was recently described that zebrafish embryos expressing a dominant negative (DN) form of thraa...
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