Samuel Refetoff to Metabolism, Inborn Errors
This is a "connection" page, showing publications Samuel Refetoff has written about Metabolism, Inborn Errors.
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0.247
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Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. J Clin Invest. 1993 Jun; 91(6):2408-15.
Score: 0.116
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Syndromes of thyroid hormone resistance. Am J Physiol. 1982 Aug; 243(2):E88-98.
Score: 0.055
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High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel. Isr J Med Sci. 1995 Aug; 31(8):500-2.
Score: 0.034
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Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism. 1972 Aug; 21(8):723-56.
Score: 0.027
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Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide. J Clin Endocrinol Metab. 2004 May; 89(5):2477-83.
Score: 0.015