Article
High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures.
The Journal of clinical endocrinology and metabolism - 1 Nov 1998
Kosugi S, Sato Y, Matsuda A, Ohyama Y, Fujieda K, Inomata H, Kameya T, Isozaki O, Jhiang S M
Abstract excerpt
A missense and loss of function mutation of the Na+/I- symporter (NIS) gene, T354P [Thr354-->Pro (ACA-->CCA)], was found in the homozygous state in two unrelated Japanese patients with iodide transport defect. In this study we have identified the homozygous T354P NIS germline mutation in seven Ja...
Topics
- Adult
- Amino Acid Sequence
- Amino Acid Substitution
- Asian People
- Carrier Proteins
- Child
- Female
- Genetic Heterogeneity
- Genotype
- Germ-Line Mutation
- Humans
- Iodine
- Japan
- Male
- Membrane Proteins