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Emmanuel Shapira, … , Fabien G. Eyal, Alexander Russell
Citation Information: J Clin Invest. 1974;53(1):59-63. https://doi.org/10.1172/JCI107559.
Emmanuel Shapira, … , Fabien G. Eyal, Alexander Russell
Published January 1, 1974
Citation Information: J Clin Invest. 1974;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.
Authors
Emmanuel Shapira, Yoav Ben-Yoseph, Fabien G. Eyal, Alexander Russell
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