Published in Volume
53, Issue 1 (January 1974)
J Clin Invest. 1974;53(1):59–63.
doi:10.1172/JCI107559.
Copyright ©
1974, The American Society for
Clinical Investigation.
Articles
Enzymatically Inactive Red Cell Carbonic Anhydrase B in a Family with Renal Tubular Acidosis
Emmanuel Shapira, Yoav Ben-Yoseph, Fabien G. Eyal and Alexander Russell
Department of Pediatrics and Child Care, Pediatric Research Unit, Hadassah University Hospital Medical School, Hebrew University, Jerusalem
Published January 1974
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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