Results 141 to 148 of about 1,581 (148)

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

2023
openaire   +2 more sources

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

Clinical Genetics
Changying Li, Ruixiao Zhang, Qing Xin
exaly  

CTNS mutations in patients with cystinosis

Human Mutation, 1999
Yair Anikster, Vorasuk Shotelersuk, William A Gahl   +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
Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar   +2 more
exaly  

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

Cells
Louise Medaer, Dries David, Maxime Smits   +2 more
exaly  

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

2023
openaire   +2 more sources

&lt;i&gt;CTNS&lt;/i&gt; Molecular Genetics Profile in a Portuguese Cystinosis Population

Open Journal of Genetics, 2018
exaly  

Analysis of the CTNS gene in 32 cystinosis patients from Spain

Clinical Genetics, 2009
exaly