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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| Publicado en: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
National Academy of Sciences
1992
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| Assuntos: | |
| Acceso en liña: | 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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