Article
Competitive polymerase chain reaction quantitation of c-erbA beta 1, c-erbA alpha 1, and c-erbA alpha 2 messenger ribonucleic acid levels in normal, heterozygous, and homozygous fibroblasts of kindred S with thyroid hormone resistance.
The Journal of clinical endocrinology and metabolism - 1 Oct 1993
Klann R C, Torres B, Menke J B, Holbrook C T, Bercu B B, Usala S J
Abstract excerpt
Mutations in the T3-binding domain of the thyroid hormone receptor gene c-erbA beta result in dominant negative proteins and thyroid hormone resistance syndromes. Variable clinical manifestations of resistance to thyroid hormones have been reported, including short stature and neuropsychological...
Topics
- Alleles
- Base Sequence
- DNA Primers
- Fibroblasts
- Gene Expression
- Heterozygote
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- RNA, Messenger
- Receptors, Thyroid Hormone
- Thyroid Diseases
- Transcription, Genetic