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Analysis of CTNS gene transcripts in nephropathic cystinosis
Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes for a cystine transmembrane transporter. Several mutations have been described in the coding and promoter regions of the CTNS gene in affected individuals. We selected three patients wit...
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| Hoofdauteurs: | , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Springer-Verlag
2010
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2874020/ https://ncbi.nlm.nih.gov/pubmed/20352457 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-010-1502-5 |
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