Article
Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.
The Journal of clinical endocrinology and metabolism - 1 Aug 1998
Fujiwara H, Tatsumi K, Miki K, Harada T, Okada S, Nose O, Kodama S, Amino N
Abstract excerpt
Iodide transport defect (ITD) is a rare disorder causing congenital hypothyroidism. We previously reported that homozygous T354P mutation in the sodium/iodide symporter (NIS) gene caused ITD. To clarify the prevalence of this mutation, artificial substitution introducing PCR followed by restricti...
Topics
- Carrier Proteins
- Codon
- Congenital Hypothyroidism
- DNA Mutational Analysis
- Deoxyribonucleases, Type II Site-Specific
- Homozygote
- Humans
- Hypothyroidism
- Iodine
- Membrane Proteins
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Symporters
- Thyrotropin