Article
Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
The Journal of clinical endocrinology and metabolism - 1 Sept 1998
Kosugi S, Inoue S, Matsuda A, Jhiang S M
Abstract excerpt
Iodide transport defect is a disorder affecting the active transport of iodide, an essential step in the synthesis of thyroid hormones. We have identified novel germ-line mutations in the Na+/I- symporter (NIS) gene from three Japanese patients with iodide transport defect. One patient had a comp...
Topics
- Adolescent
- Adult
- Animals
- Biological Transport, Active
- COS Cells
- Carrier Proteins
- Child
- Child, Preschool
- Female
- Gene Expression
- Heterozygote
- Homozygote
- Humans
- Hypothyroidism
- Iodides
- Japan
- Male
- Membrane Proteins