pISSN 2287-979X
eISSN 2288-0011

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Fig. 2.

Mutation showed a single base substitution of G to A in intron 5 at nt. position (c.1154-14G>A). Subsequently, 12 bp insertion was thought to have created a new splice site to form an unstable protein with 4 extra amino acids (Val-Phe-Leu-Pro). Arrow indicates the intron-exon junction and boxes indicate the mutated nucleotides [8].

Blood Res 2018;53:81~83
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