Enzymatically Inactive Red Cell Carbonic Anhydrase B in a Family with Renal Tubular Acidosis

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 elec...

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Bibliografski detalji

Izdano u:	J Clin Invest
Glavni autori:	Shapira, Emmanuel, Ben-Yoseph, Yoav, Eyal, Fabien G., Russell, Alexander
Format:	Artigo
Jezik:	Inglês
Izdano:	American Society for Clinical Investigation 1974
Teme:	Articles
Online pristup:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC301438/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4202671/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI107559
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