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The expression of COL4A5 variants in fibroblasts and iPSCs. (A) RT-PCR amplification was used with specific primers containing the mutation site of COL4A5. (B–D) COL4A5 sequence variants in the missense mutation (B), frameshift mutation (C), and splicing mutation (D) fibroblasts and iPSCs identified by Sanger sequencing. (MM, missense mutation; SM, splicing mutation; FM, frameshift mutation).
