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Table 2 Differentially methylated positions (DMPs) in CD4 + T-cells

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Sochacka, A

Patients who carry a homozygous cystinosin(7) mutation develop juvenile/intermediate cystinosis, while those who have one allele of cystinosin(7) together with one allele of a 57 kb genomic DNA deletion at CTNS locus the most common cystinosis mutation that leads to a complete loss of the protein develop infantile/severe cystinosis