Associated Papers
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
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
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.
Topaloglu R et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2017
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.
Soliman NA et al.
Jimd Reports, 2014
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
Kalatzis V et al.
Human Mutation, 2002
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
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