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Keywords: renal tubular acidosisClose
Journal: Journal of Experimental Biology
J Exp Biol (2009) 212 (11): 1672–1683.
Published: 1 June 2009
... mutations causes familial distal renal tubular acidosis. The Slc4a2/Ae2 –/– mouse dies before weaning with achlorhydria and osteopetrosis. A hypomorphic Ae2 –/– mouse survives to exhibit male infertility with defective spermatogenesis and a syndrome resembling primary biliary cirrhosis. A human SLC4A3/AE3...