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. 1974 Jan;53(1):59-63.
doi: 10.1172/JCI107559.

Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis

E Shapira, Y Ben-Yoseph, F G Eyal, A Russell

Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis

E Shapira et al. J Clin Invest. 1974 Jan.

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.

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References

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