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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

Figure 3

5′ Nuclease Assay: A) Relative fold-change in the gene expression of MECP2_E1 normal (NL), MECP2_E1 mutant (MT), and MECP2_E2 transcripts in RTT individual with c.48C>T substitution, and three healthy control subjects. All samples were normalized to endogenous control PGK1. Fold-change in the gene expression was calculated using ΔΔCt method and shown after log transformation. Error bars indicate standard error of the means. All reactions were done using three biological replicates per sample. B) Subject details. (ND*: Not detected).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172