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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency

Fig. 3

Analysis of the c.799–12 G > A mutation using minigene construct. A, the F13A1 gene fragment selected for minigene. The position of mutation site c.799-12G > A and fragment containing exon 7 and its adjacent intron 6 are indicated. B, C analysis of mRNA from transfected Hela and 293 T cells via real-time polymerase chain reaction and direct sequencing. The expressed WT and mutant minigenes mRNA was analyzed via agarose gel electrophoresis and direct sequencing. D, The amino acid sequence of wt and mutated protein

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BMC Medical Genetics

ISSN: 1471-2350

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