FIGURE 5.

Genetic findings in HHD family 2 (a) A splice‐site mutation c.2126+1G>A of ATP2C1 gene in family 2 found by PCR and sequencing. (b) Schematic diagram of the abnormal splicing process caused by c.2126+1G>A mutation. (c) Sanger sequencing of RT‐PCR products identified exon 22‐truncated and deletion of exon 22 plus a partial sequence of exon 23's 5′ end in the mutant type. (d) RT‐PCR products were separated by electrophoresis. (e) Sequencing result of I:2, II:3, III:2, and III:5 of family 2