Associated Papers
Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.
Sahli C et al.
Bmc Genomic Data, 2026
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
Venkatarangan V et al.
The Journal of Clinical Investigation, 2023
37561577 (PubMed )
Supplement: jci-133-169551-s166.pdf
Structural basis for proton coupled cystine transport by cystinosin.
Löbel M et al.
Nature Communications, 2022
35977944 (PubMed )
Supplement: 41467_2022_32589_MOESM1_ESM.pdf
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.
Servais A et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2008
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