Article
Analysis of the promoter of the thyrotropin receptor gene and the entire genomic sequence of thyroid transcription factor-1 in familial congenital hypothyroidism due to thyrotropin unresponsiveness.
Thyroid : official journal of the American Thyroid Association - 1 Apr 1998
Hishinuma A, Takamatsu J, Kanno Y, Yoshida S, Ieiri T
Abstract excerpt
We previously reported that our patients with congenital primary hypothyroidism associated with thyrotropin (TSH) unresponsiveness through an autosomal recessive pattern of inheritance did not have mutations in the coding region of the TSH receptor gene. In the current study, we analyzed the prom...
Topics
- Animals
- Base Sequence
- Child, Preschool
- Genetic Testing
- Humans
- Hypothyroidism
- Molecular Sequence Data
- Mutation
- Nuclear Proteins
- Polymerase Chain Reaction
- Promoter Regions, Genetic
- Rats
- Receptors, Thyrotropin
- Thyroid Gland