Samuel Refetoff to Frameshift Mutation
This is a "connection" page, showing publications Samuel Refetoff has written about Frameshift Mutation.
Connection Strength
0.224
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TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berl). 2006 Oct; 84(10):864-71.
Score: 0.072
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A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 May; 91(5):1887-95.
Score: 0.070
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Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). J Clin Endocrinol Metab. 1998 Oct; 83(10):3604-8.
Score: 0.042
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Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. J Clin Invest. 1998 Mar 01; 101(5):1028-35.
Score: 0.040