Fig. 5
From: Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease
Exon 8 sequencing for the ATP2C1 gene in sporadic case I. a Sequencing result of exon 8 in sporadic case I. b Sequencing result of exon 8 for normal member in the same pedigree. c Sequencing result of exon 8 for normal individual who was not blood related. d A nonsense mutation c.C635A(Bases C → A) in exon 8 of ATP2C1 gene in the Ensemble database (indicated by arrows)