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Is genetic rescue of cystinosis an achievable treatment goal?
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The defective gene is CTNS, which encodes the lysosomal cystine transporter, cystinosin. Cystine accumulates in all tissues and leads to organ damage including end-stage renal disease. I...
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| Hlavní autor: | |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2014
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| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3938296/ https://ncbi.nlm.nih.gov/pubmed/23861466 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gft270 |
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