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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| Publié dans: | Proc Natl Acad Sci U S A |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
National Academy of Sciences
1992
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| Sujets: | |
| Accès en ligne: | 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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