Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12

أنهيدراز كربوني 12

الأنهيدراز الكربوني 12 هو إنزيم يُرمَّز لدى البشر بواسطة الجين CA12.

Isolated hyperchlorhidrosis

Isolated hyperchlorhidrosis, also known as Carbonic anhydrase XII deficiency, is a rare autosomal recessive genetic condition characterized by a lifelong tendency to…

CA12

Carbonic anhydrase 12 is an enzyme that in humans is encoded by the CA12 gene.