Single base mutation in the hormone binding domain of the thyroid hormone receptor β gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis
- 1 July 1991
- journal article
- case report
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 178 (2) , 606-612
- https://doi.org/10.1016/0006-291x(91)90151-v
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.Journal of Clinical Investigation, 1991
- Structural analysis of human thyroid hormone receptor β geneMolecular and Cellular Endocrinology, 1990
- A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.Journal of Clinical Investigation, 1990
- Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reactionGenomics, 1989
- Positive and negative regulation of gene transcription by a retinoic acid-thyroid hormone receptor heterodimerCell, 1989
- Identification of a tHyroid Hormone Receptor That Is Pituitary-SpecificScience, 1989
- Thyroid hormone resistance in a large kindred: Physiologic, biochemical, pharmacologic, and neuropsychologic studiesThe American Journal of Medicine, 1989
- The c-erb-A gene encodes a thyroid hormone receptorNature, 1986
- Analysis of radioligand binding experimentsJournal of Pharmacological Methods, 1985
- THE ATTRACTIONS OF PROTEINS FOR SMALL MOLECULES AND IONSAnnals of the New York Academy of Sciences, 1949