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Infantile Nephropathic Cystinosis: A Novel CTNS Mutation
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosi...
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| Pubblicato in: | Eurasian J Med |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
The Eurasian Journal of Medicine
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5469843/ https://ncbi.nlm.nih.gov/pubmed/28638260 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5152/eurasianjmed.2017.17039 |
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