A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.

@article{Matsuda1997AHM,
  title={A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.},
  author={Akira Matsuda and Shinji Kosugi},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1997},
  volume={82 12},
  pages={3966-71}
}
Iodide transport defect is a disorder characterized by an inability of the thyroid to maintain an iodide concentration difference between the plasma and the thyroid. The recent cloning of the sodium/iodide symporter (NIS) gene enabled us to characterize the NIS gene in this disorder. We identified a homozygous missense mutation of A-->C at nucleotide +1060 in NIS complementary DNA in a male patient who was born from consanguineous marriage, had a huge goiter, and lacked the ability to… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 27 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 26 references

Cloning of the human sodium iodide symporter

  • PA Smanik, Q Liu, TL Furminger
  • 1996
Highly Influential
5 Excerpts

A case of iodide concentration disorder thyroid disease accompanied by citrullinemia

  • S Hamada, T Matsumura, M. Yawata
  • Nippon Rinsho
  • 1974
Highly Influential
4 Excerpts

Congenital hypothyroidism caused by a mutation in the Na1/I2 symporter

  • H Fujiwara, K Tatsumi, K Miki
  • Nat Genet
  • 1997
Highly Influential
3 Excerpts

Different electrophysiological character of I2, ClO4 2 and SCN2 in the transport by Na1/I2 symporter

  • A Yoshida, N Sasaki, A Mori
  • Biochem Biophys Res Commun
  • 1997
1 Excerpt

Expression , exonintron organization , and chromosomal mapping of the human sodium / iodide symporter

  • PA Smanik, Ryu K-Y, KS Theil, EL Mazzaferri, SM Jhiang
  • Endocrinology
  • 1997

Cloning of the human sodium iodide symporter Biochem Biophys Res Commun

  • PA Smanik, Q Liu, TL Furminger
  • 1996

Similar Papers

Loading similar papers…