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December 1, 1991Journal of Clinical InvestigationOpen Access

Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain.

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Authors

RPRoberto ParrillaConsejo Superior de Investigaciones CientíficasAMA. James MixsonUniversity of Maryland, BaltimoreJMJ A McPhersonNational Institutes of Health

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Parrilla et al. (1991) studied this question.

synapsesocial.com/papers/6a82aa74e41271e79b8d5e5chttps://doi.org/10.1172/jci115542
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Also Consider

Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβThyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance1991 · 62 citations
  2. 2Familial Syndrome Combining Deaf-Mutism, Stippled Epiphyses, Goiter and Abnormally High PBI: Possible Target Organ Refractoriness to Thyroid Hormone121967 · 574 citations