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SLC12A1
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Bartter syndrome
- In Bartter syndrome: Types of Bartter syndrome
…mutation of the gene designated SLC12A1 (solute carrier family 12, member 1), whereas type 2 is caused by mutation of the gene KCNJ1 (potassium inwardly rectifying channel, subfamily J, member 1). These genes play fundamental roles in maintaining physiological homeostasis of sodium and potassium concentrations.
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