Carbonic anhydrase 5A, mitochondrial
Definition:
References:
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[1]. Y Nagao, et al. Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16. Proc Natl Acad Sci U S A. 1993 Aug 15;90(16):7623-7. [Content Brief]
[2]. Clara D van Karnebeek, et al. Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Am J Hum Genet. 2014 Mar 6;94(3):453-61. [Content Brief]
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