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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function

Fig. 5

Mutations c.594G > A (p.W198X) and c.734C > T (p.P245L) caused changes in the expression level of the CANT1 gene. a: Sequencing results showed that mutations c.594G > A (p.W198X) and c.734C > T (p.P245L) were successfully introduced; b: IF results (measurement scale was 40 times); c: mRNA expression detected by qPCR; d: CANT1 protein expression results by WB

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172