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Analysis of CTNS gene transcripts in nephropathic cystinosis [PDF]

open access: yesPediatric Nephrology, 2010
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, 2022
Yan-Nan Guo, Lili Liu, Liu Li-Li
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  

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

Human Molecular Genetics, 1999
Corinne Antignac   +2 more
exaly  

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

American Journal of Human Genetics, 1999
Cathryn M Lewis   +2 more
exaly  

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