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Genetic findings in HHD family 1 (a) A splice‐site mutation c.2487+1G>A of ATP2C1 gene in P1 found by PCR and sequencing. (b) Schematic diagram of the abnormal splicing process caused by c.2487+1G>A mutation. (c) Sanger sequencing of RT‐PCR products of minigene assay identified exon 25‐truncated transcript in the mutant type. (d) RT‐PCR products were separated by electrophoresis
