Two novel intronic variants in ABCB4: Clinical features, molecular mechanisms, and literature review

Figure 1 Minigene splice assays in variants of c. 537-32G>T and c.833+2T>C. A: Agarose gel electrophoresis of real-time polymerase chain reaction products; B: Multiple sequence alignment of the variant c.833+2T>C [mutation, wild-type (WT) 1, and exon 8 + exon 9 of ABCB4] demonstrates the retention of a 67-bp intronic sequence; C: Multiple sequence alignment of the c.537-32G>T variant (mutation, WT2, and exon 6 + exon 7 of ABCB4) demonstrates the retention of a 16-bp intronic sequence. MOCK: PcDNA3.1 empty vector plasmid; WT: Wild-type; Mut: Mutation.