Fig. 2: Genetic analysis and protein expression. | BDJ Open

Fig. 2: Genetic analysis and protein expression.

From: Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature

Fig. 2

A Chromatogram demonstrated the compound heterozygous variants in the proband. The c.625 G > T, p.(Gly209*) was inherited from the mother and the c.1661-3 C > G from the father. B, C The ITGB6 level in the patient’s gingival cells was significantly lower than that in controls.

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