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Genetic basis of cystinosis in Turkish patients: a single-center experience
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7–29 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Cystinosis was diagnosed at age 1 month to 9 years. Seven patients reached end-stage renal failure at ages ranging fr...
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| Main Authors: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3501933/ https://ncbi.nlm.nih.gov/pubmed/21786142 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-011-1942-6 |
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