Slc12a3 Gene
Human Genetics Research Article
A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family
Authors: Muhammad Imran Naseer, Osama Yousef Muthaffar , Mahmood Rasool, Angham Abdulrahman Abdulkareem, Mohammad Alam Jafri, Peter Natesan Pushparaj, Gauthaman Kalamegam, Adeel G. Chaudhary, Mohammad H. Al-Qahtani
Gitelman syndrome (GS) is a genetic disorder that affects kidney and causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. GS is characterized by hypokalemia and metabolic alkalosis. GS is a rare autosomal recessive renal tubulopathy disease caused by loss-of-function mut.. Read More»
- Genet. Mol. Res. 17(1):
- gmr16039858
- DOI:
- 10.4238/gmr16039858