Fig. 4 | Journal of Human Genetics

Fig. 4

From: Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

Fig. 4

Functional analysis of the ATG endoglin mutant. COS-7 cells were transfected with wild type (WT) or endoglin mutants c-142A>T (−142) or c-127C>T (−127), using an empty vector (Ø) as a negative control. After 48 h, cells were lysed and total cell lysates were subjected to western blot analysis using anti-endoglin or anti-γ-tubulin antibodies. Normalized endoglin levels relative to total γ-tubulin protein from three different experiments are shown in the histogram. An arbitrary value of 1.0 was assigned to WT endoglin. ***p < 0.005

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