Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
The clinical, radiological, and pathological findings in three siblings affected with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification have been reported. In an effort to explain the pleiotropic effects of the mutation producing this disorder,...
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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
1983
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC393906/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6405388/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.80.9.2752 |
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