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Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis
Cystinosis is a rare, incurable, autosomal recessive disease caused by mutations in the CTNS gene. This gene encodes the lysosomal cystine transporter cystinosin, leading to lysosomal cystine accumulation in all cells of the body, with kidneys being the first affected organs. The current treatment w...
Autores principales: | Berlingerio, Sante Princiero, He, Junling, De Groef, Lies, Taeter, Harold, Norton, Tomas, Baatsen, Pieter, Cairoli, Sara, Goffredo, Bianca, de Witte, Peter, van den Heuvel, Lambertus, Baelde, Hans J., Levtchenko, Elena |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8430996/ https://www.ncbi.nlm.nih.gov/pubmed/34502306 http://dx.doi.org/10.3390/ijms22179398 |
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