Enzymatically Inactive Red Cell Carbonic Anhydrase B in a Family with Renal Tubular Acidosis
AUTOR(ES)
Shapira, Emmanuel
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=301438Documentos Relacionados
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