Mutation, Missense

Atherosclerosis: analysis of the eNOS (T786C) gene polymorphism.

A. M. Barbosa, Silva, K. S. F., Lagares, M. H., Rodrigues, D. A., da Costa, I. R., Morais, M. P., Martins, J. V. M., Mascarenhas, R. S., Campedelli, F. L., and Moura, K. K. V. O., “Atherosclerosis: analysis of the eNOS (T786C) gene polymorphism.”, Genet Mol Res, vol. 16, no. 3, 2017.

Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.

G. A. Molfetta, Zanette, D. L., Santos, J. E., and Silva, W. A., “Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.”, Genet Mol Res, vol. 16, no. 3, 2017.

Association of endothelin-1 gene polymorphisms with essential hypertension in a Chinese population.

Z. Fang, Li, M., Ma, Z., and Tu, G., “Association of endothelin-1 gene polymorphisms with essential hypertension in a Chinese population.”, Genet Mol Res, vol. 16, no. 3, 2017.

Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.

R. E. Jiménez-Arredondo, Brambila-Tapia, A. J. L., Mercado-Silva, F. M., Magaña-Torres, M. T., and Figuera, L. E., “Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.”, Genet Mol Res, vol. 16, no. 2, 2017.

Effects of mutant TDP-43 on the Nrf2/ARE pathway and protein expression of MafK and JDP2 in NSC-34 cells.

Y. P. Tian, Che, F. Y., Su, Q. P., Lu, Y. C., You, C. P., Huang, L. M., Wang, S. G., Wang, L., and Yu, J. X., “Effects of mutant TDP-43 on the Nrf2/ARE pathway and protein expression of MafK and JDP2 in NSC-34 cells.”, Genet Mol Res, vol. 16, no. 2, 2017.

Polymorphism of the gene eNOS G894T (Glu298Asp) in symptomatic patients with aterosclerosis.

F. L. Campedelli, Silva, K. S. F. E., Rodrigues, D. A., Martins, J. V. M., Costa, I. R., Lagares, M. H., Barbosa, A. M., de Morais, M. P., and Moura, K. K. V. O., “Polymorphism of the gene eNOS G894T (Glu298Asp) in symptomatic patients with aterosclerosis.”, Genet Mol Res, vol. 16, no. 2, 2017.