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. Author manuscript; available in PMC: 2015 Jan 17.
Published in final edited form as: Nat Genet. 2010 Aug 8;42(9):794–800. doi: 10.1038/ng.641

Figure 2. Consequences of splice site mutations in cDNA from individuals D347, 647, and I066.

Figure 2

Panel (a) RT-PCR using an exon 6 forward primer and an exon 10 reverse primer on cDNA generated from these patients. The wildtype amplicon is 616 base pairs long. Lane 1: MW ladder, Lane 2: I066, Lane 3: D347, Lane 4: D647, Lane 5: CBL point mutant, Lane 6: HM2833 CBL wildtype, Lane 7: Genomic DNA control, Lane 8: no template control. Panel (b) is a schematic representation of the splice site variants detected either recurrently (D347) or that were shared by I066 and D647. Sequences are shown in Figure S2. Deletions of base pairs are indicated by Δ# of base pairs and insertions by ins # base pairs. Premature stop codons are indicated by asterisks (*).

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