Enzymatically Inactive Red Cell Carbonic Anhydrase B in a Family with Renal Tubular Acidosis
Open Access
- 1 January 1974
- journal article
- Published by American Society for Clinical Investigation in Journal of Clinical Investigation
- Vol. 53 (1) , 59-63
- https://doi.org/10.1172/jci107559
Abstract
An inactive mutant form of red cell carbonic anhydrase B is described in three members of a large kindred who manifest infantile renal tubular acidosis and nerve deafness. A combination of enzymatic and immunologic investigations permitted its detection, despite the fact that both antigenic and electrophoretic properties of the mutant were identical to those of the normal form.Keywords
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