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. [electronic resource]
Producer: 20060607Description: 1887-95 p. digitalISSN:- 0021-972X
- Amino Acid Sequence
- Child
- DNA-Binding Proteins -- genetics
- Electrophoretic Mobility Shift Assay
- Fibroblasts -- metabolism
- Frameshift Mutation -- genetics
- Genes, Reporter -- genetics
- Histone Acetyltransferases
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Nuclear Proteins -- metabolism
- Nuclear Receptor Co-Repressor 1
- Nuclear Receptor Co-Repressor 2
- Nuclear Receptor Coactivator 1
- Pituitary Gland -- physiopathology
- Plasmids -- genetics
- Repressor Proteins -- genetics
- Thyroid Hormone Receptors beta -- genetics
- Thyroid Hormone Resistance Syndrome -- genetics
- Transcription Factors -- metabolism
- Transfection
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
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