Emmanuel Shapira, Yoav Ben-Yoseph, Fabien G. Eyal, Alexander Russell
J Clin Invest.
1974;
53(1):59–63
doi:10.1172/JCI107559
This article Copyright © 1974, The American Society for Clinical Investigation
Abstract
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n 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.
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