Results 141 to 146 of about 1,591 (146)

Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay

American Journal of Human Genetics, 1999
Cathryn M Lewis, Corinne Antignac, Stephanie Cherqui   +2 more
exaly  

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

Frontiers in Pediatrics, 2019
Farkhondeh Behjati, Miriam Schmidts, Anoush Azarfar   +2 more
exaly  

Functional analysis of the CTNS gene exonic variants predicted to affect splicing

Clinical Genetics
Ruixiao Zhang, Wencong Guo, Changying Li   +2 more
exaly  

Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model

Cells
Maurilio Sampaolesi, Dries David, Elena Levtchenko   +2 more
exaly  

Decision letter for "Functional analysis of the <scp>CTNS</scp> gene exonic variants predicted to affect splicing"

2023
openaire   +1 more source

Analysis of the CTNS gene in 32 cystinosis patients from Spain

Clinical Genetics, 2009
exaly