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Cystinosis is diagnosed biochemically by measuring the cystine content of leucocyte and molecularly by identifying pathogenic variants in CTNS

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doi: 10.1016/j.jddst.2016.06.007 176

Western blot analysis RIPA Lysis Buffer (TransGen, Beijing, China) was used to extract total protein from tissues/fibroblasts and a Nuclear and Cytoplasmic Protein Extraction Kit (TransGen) was used to extract the protein from nucleus and cytoplasm of fibroblasts