COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient

Figure 2

Relative COG6 expression in this family: (a) illustration of two kinds of mRNAs in this patient, resulted from maternal variant and paternal variant. 1F/1R, 2F/2R, and 3F/3R are three pairs of primers used in quantitative PCR (qPCR). M-mRNA: maternal mRNA; P-mRNA: paternal mRNA; PTC: premature termination codon; (b) qPCR results show that quantity of COG6 mRNA in this patient is not the lowest in her family (three independent experiments for each primer pair). P: patient; F: father; M: mother; C: control.