Genetic Landscape of Nephropathic Cystinosis in Russian Children
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DOI: 10.3389/fgene.2022.863157
Abstract: Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the… read more here.
Keywords: nephropathic cystinosis; ctns gene; landscape nephropathic; genetic landscape ... See more keywords