Molecular basis of human carbonic anhydrase II deficiency.

Deficiency of carbonic anhydrase II (carbonate hydro-lyase, EC 4.2.1.1) is the primary defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification. In this report we describe the molecular basis for carbonic anhydrase II deficiency in the American family in which the...

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Veröffentlicht in:	Proc Natl Acad Sci U S A
Hauptverfasser:	Roth, D E, Venta, P J, Tashian, R E, Sly, W S
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	National Academy of Sciences 1992
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC48541/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1542674/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.89.5.1804
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