Article
A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone.
Thyroid : official journal of the American Thyroid Association - 1 Oct 1997
Nagashima T, Yagi H, Nagashima K, Sakurai A, Onigata K, Nomura Y, Morikawa A, Matazow G, Couch R M, Weiss R E, Refetoff S
Abstract excerpt
Resistance to thyroid hormone (RTH) is characterized by variable tissue hyporesponsiveness to thyroid hormone caused by mutations of thyroid hormone receptor beta (TRbeta) gene. We found a novel point mutation of the TRbeta gene in a family (F123) with RTH, a transition of a guanine to adenine at nucleotide 1215, which replaced the normal Met-310 with Ile. This substitution was found in only one allele of...
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