Advertisement
Research Article Free access | 10.1172/JCI107559
Department of Pediatrics and Child Care, Pediatric Research Unit, Hadassah University Hospital Medical School, Hebrew University, Jerusalem
Find articles by Shapira, E. in: JCI | PubMed | Google Scholar
Department of Pediatrics and Child Care, Pediatric Research Unit, Hadassah University Hospital Medical School, Hebrew University, Jerusalem
Find articles by Ben-Yoseph, Y. in: JCI | PubMed | Google Scholar
Department of Pediatrics and Child Care, Pediatric Research Unit, Hadassah University Hospital Medical School, Hebrew University, Jerusalem
Find articles by Eyal, F. in: JCI | PubMed | Google Scholar
Department of Pediatrics and Child Care, Pediatric Research Unit, Hadassah University Hospital Medical School, Hebrew University, Jerusalem
Find articles by Russell, A. in: JCI | PubMed | Google Scholar
Published January 1, 1974 - More info
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.
Images.