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...

Descrizione completa

Dettagli Bibliografici

Pubblicato in:	J Clin Invest
Autori principali:	Shapira, Emmanuel, Ben-Yoseph, Yoav, Eyal, Fabien G., Russell, Alexander
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1974
Soggetti:	Articles
Accesso online:	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
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!