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Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis
Background: Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer Berlin Heidelberg
2014
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4213330/ https://ncbi.nlm.nih.gov/pubmed/24464559 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_288 |
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