Nephropathic cystinosis: an international consensus document
Abstract. Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the mos
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
[2014]
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| In: |
Nephrology, dialysis, transplantation
Year: 2014, Jahrgang: 29, Heft: suppl_4, Pages: iv87-iv94 |
| ISSN: | 1460-2385 |
| DOI: | 10.1093/ndt/gfu090 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/ndt/gfu090 Verlag, lizenzpflichtig, Volltext: https://academic.oup.com/ndt/article/29/suppl_4/iv87/1907983 
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| Verfasserangaben: | Francesco Emma, Galina Nesterova, Craig Langman, Antoine Labbé, Stephanie Cherqui, Paul Goodyer, Mirian C. Janssen, Marcella Greco, Rezan Topaloglu, Ewa Elenberg, Ranjan Dohil, Doris Trauner, Corinne Antignac, Pierre Cochat, Frederick Kaskel, Aude Servais, Elke Wühl, Patrick Niaudet, William Van't Hoff, William Gahl and Elena Levtchenko |
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| 520 | |a Abstract. Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the mos | ||
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