Fig. 1From: ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxiaPedigree and sequence chromatograms of the family. a - Small circles on the top right indicate members for whom whole-exome sequencing was carried out. Asterisks indicate members for whom the PCR and Sanger sequencing validation were carried out. b - Red letters show the heterozygous substitution c.4657G>A in the affected individualBack to article page