Figure 1
From: The use of whole-exome sequencing to disentangle complex phenotypes

Segregation of PRX variant R1070* in consanguineous Bangladeshi pedigree. Electropherograms generated by Sanger sequencing. Affected siblings (II:2 and II:3) are homozygous T (c.3208C>T; p.R1070*), unaffected siblings (II:1 and II:4) and parents (I:1 and I:2) are heterozygous C/T.