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Fig. 3 | Italian Journal of Pediatrics

Fig. 3

From: Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population

Fig. 3

Sanger sequencing of an amplified DNA fragment of exon 12 of SEC23B gene (A) Normal (Wild Type) (B) TGT/TGT (Homozygous) (C) TAT/TGT (Heterozygous for CDA having normal phenotype) and HRM profile for genotypic differentiation. (D) Melt curve showing homozygous (Y462C), heterozygous, and normal wild type. (E) Difference plot showing homozygous (Y462C), heterozygous and normal wild type

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