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A new point mutation (A420G) in the thyroid hormone receptor-beta gene of a patient with resistance to thyroid hormone



A new point mutation (A420G) in the thyroid hormone receptor-beta gene of a patient with resistance to thyroid hormone



Acta Medica Nagasakiensia 40(1-4): 1-6



Resistance to thyroid hormone (RTH) is a syndrome of reduced responsiveness of tissues to thyroid hormone. We present a new point mutation at nucleotide 1544 of the T-3 binding region of thyroid hormone receptor-beta (TR-beta) resulting in a lysine to arginine substitution in codon 420 in a female patient diagnosed with RTH in Nagasaki, Japan.

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Accession: 008054203

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