Associated Papers
CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants.
Mohammadi Chermahini Z et al.
Advanced Biomedical Research, 2024
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
David D et al.
Nephron, 2019
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.
Najafi M et al.
Frontiers in Pediatrics, 2019
TRPV1 dysfunction in cystinosis patients harboring the homozygous 57 kb deletion.
Buntinx L et al.
Scientific Reports, 2016
Select a paper to view details