Fig. 4
From: Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
Minigene splicing reporter assay for the c.244G>T mutant. a RT-PCR products of minigene. 1, 2, 3 WT minigene products; 4, 5, 6 c.244G>T mutant minigene products. b Sanger sequencing of RT-products of WT; the line denotes the missing sequence in c. c Sanger sequencing of RT-products of the medium size RT-PCR products of c.244G>T mutant; the arrow indicates the breakpoint of the deletion sequence. d Sanger sequencing of RT-products of the shortest RT-PCR product of c.244G>T mutant