Research Article: Novel Intronic Mutations of the SLCA Gene in Patients with Gitelman Syndrome
Introduction:
Gitelman syndrome (GS) is an autosomal recessive disease, characterized by hypokalemic alkalosis, accompanied by hypomagnesaemia, hypocalciuria, low blood pressure, and hypocalcemia, first described by Gitelman in . It is caused by mutations in the SLCA gene, which is located on the long arm of chromosome (q) and encodes the renal thiazide-sensitive Na/Cl co-transporter (NCCT) in the distal convoluted tubules.
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