Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.

@article{Igarashi2001NovelNM,
  title={Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.},
  author={Takashi Igarashi and Jun Inatomi and Takashi Sekine and George Seki and Mitsunobu Shimadzu and Fumiko Tozawa and Yasuhiro Takeshima and Toru Takumi and Takao Takahashi and N. Yoshikawa and H. Richard Nakamura and Hitoshi Endou},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2001},
  volume={12 4},
  pages={713-8}
}
Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease involving short stature, isolated pRTA, mental retardation, and ocular abnormalities. Kidney Na+/HCO3- cotransporter (kNBC1) cDNA from peripheral lymphocytes from a patient with permanent isolated pRTA and bilateral glaucoma was screened, and a novel homozygous mutation, namely a cytosine-to-thymine transition at nucleotide 234, which resulted in the formation of a stop codon at codon 29… CONTINUE READING
Highly Influential
This paper has highly influenced 12 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS
51 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 51 extracted citations

Similar Papers

Loading similar papers…