CTNS molecular genetics profile in a Persian nephropathic cystinosis population
Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Methods: Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred...
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| Autori principali: | , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Espanhol |
| Pubblicazione: |
Elsevier
2017-05-01
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| Serie: | Nefrología |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S0211699517300061 |
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