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Fig. 7 | Orphanet Journal of Rare Diseases

Fig. 7

From: Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH

Fig. 7

The ATP-dependent activation of Leu527Phe variant. (A) Guanylyl cyclase activity was determined in HEK293T cells (expressing wild-type or Leu527Phe variant of NPR2 or both) in the absence or presence of ATP (1–1000 µM) and 100nM CNP (n = 3). The solid line indicates the average, while the dashed line indicates the corresponding standard deviation score. (B) The mean wild-type values at each time point were adjusted to 1′, and each black dot represents the relative value of the cGMP level. Each value represents the mean ± SD from at least three independent cultures (***p < 0.001 by t-test)

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