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Analysis of CTNS gene transcripts in nephropathic cystinosis [PDF]
Nephropathic cystinosis (NC) is an autosomal recessive disorder caused by mutations of the CTNS gene that encodes for a cystine transmembrane transporter. Several mutations have been described in the coding and promoter regions of the CTNS gene in affected individuals.
Elena Levtchenko +2 more
exaly +4 more sources
Some of the next articles are maybe not open access.
Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant
Frontiers in Pediatrics, 2022Yan-Nan Guo, Lili Liu, Liu Li-Li
exaly
Authentication protocol in CTNs for a CWD-WPT charging system in a cloud environment
Ad Hoc Networks, 2020Paulo Gondim
exaly
<i>CTNS</i> Molecular Genetics Profile in a Portuguese Cystinosis Population
Open Journal of Genetics, 2018exaly
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis
Human Mutation, 2002Andrea Superti-Furga
exaly
The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population
Journal of Pediatric Endocrinology and Metabolism, 2019, Di Wu, Bing-Yan Cao
exaly

