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Novel OCRL mutations in patients with Dent-2 disease
Dent disease is an X-linked tubulopathy frequently caused by mutations in the CLCN5 gene encoding the voltage-gated chloride channel and chloride/proton antiporter, ClC-5. About 15% of patients with a Dent' phenotype have mutations in the OCRL gene, which also causes Lowe oculocerebrorenal synd...
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| Опубликовано в: : | J Pediatr Genet |
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| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Georg Thieme Verlag KG
2012
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5020915/ https://ncbi.nlm.nih.gov/pubmed/27625797 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-2012-005 |
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