Article
Molecular genetics of hereditary thyroid diseases due to a defect in the thyroglobulin or thyroperoxidase synthesis.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Dec 1994
Targovnik H M, Varela V, Frechtel G D, Cerrone G E, Copelli S B, Propato F V, Mendive F
Abstract excerpt
1. Hereditary goiter and the various degrees of thyroid hypofunction are the result of structural changes in the thyroglobulin (Tg) or thyroperoxidase (TPO) proteins, the inability to couple iodotyrosines or defective iodination, impairing or substantially altering the synthesis of T4 and T3. 2. The first mutations in the Tg and TPO genes responsible for human cases of dyshormonogenesis have been described. The...
Topics
- Amino Acid Sequence
- Base Sequence
- Gene Expression Regulation
- Goiter
- Humans
- Molecular Sequence Data
- Molecular Structure
- Mutation
- Peroxidase
- Thyroglobulin