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Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China
Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, ne...
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| Опубликовано в: : | Intractable Rare Dis Res |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2017
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5451742/ https://ncbi.nlm.nih.gov/pubmed/28580211 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2017.01019 |
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