Article
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
The Journal of clinical investigation - 1 Oct 1992
Abramowicz M J, Targovnik H M, Varela V, Cochaux P, Krawiec L, Pisarev M A, Propato F V, Juvenal G, Chester H A, Vassart G
Abstract excerpt
Thyroid peroxidase (TPO) is the key enzyme in the synthesis of thyroid hormones, and the TPO defects are believed to be the most prevalent causes of the inborn errors of thyroid metabolism. We investigated an adopted boy with iodide organification defect, who presented with florid hypothyroidism at the age of 4 mo, poorly complied with thyroxine treatment, and developed a compressive goiter necessitating partial...
Topics
- Amino Acid Sequence
- Base Sequence
- Goiter
- Humans
- Infant
- Iodide Peroxidase
- Male
- Molecular Sequence Data
- Mutation
- RNA, Messenger