Abnormal orotic acid metabolism associated with acute hyperammonaemia in the rat.
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Biomedical subjects
Publications and source records attributed to A Russell.
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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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