Hypothyroidism in a Brazilian Kindred Due to Iodide Trapping Defect Caused by a Homozygous Mutation in the Sodium/Iodide Symporter Gene
- 1 November 1997
- journal article
- case report
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 240 (2) , 488-491
- https://doi.org/10.1006/bbrc.1997.7594
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- Expression, Exon-Intron Organization, and Chromosome Mapping of the Human Sodium Iodide SymporterEndocrinology, 1997
- Congenital hypothyroidism caused by a mutation in the Na+/l− symporterNature Genetics, 1997
- Cloning of the Human Sodium Iodide SymporterBiochemical and Biophysical Research Communications, 1996
- Cloning and characterization of the thyroid iodide transporterNature, 1996
- Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.Journal of Clinical Investigation, 1994
- Iodide Transport in a Continuous Line of Cultured Cells from Rat ThyroidEndocrinology, 1984
- Polymorphic DNA region adjacent to the 5' end of the human insulin gene.Proceedings of the National Academy of Sciences, 1981
- The Salivary Iodide Trap in Nontoxic GoiterJournal of Clinical Endocrinology & Metabolism, 1968
- Some Observations on Cretinism and Its TreatmentNew England Journal of Medicine, 1958