Adeel G. Chaudhary
Publications of : Adeel G. Chaudhary
Human Genetics Research Article
A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family
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 mutations in the SLC12A3 gene. Objective of.. Read More»
Genet. Mol. Res. 17(1): gmr16039858
DOI: 10.4238/gmr16039858
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Citations : 56184
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