Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

por Thiffault, I, Hamel, N, Pal, T, McVety, S, Marcus, V A, Farber, D, Cowie, S, Deschênes, J, Meschino, W, Odefrey, F, Goldgar, D, Graham, T, Narod, S, Watters, A K, MacNamara, E, Sart, D Du, Chong, G, Foulkes, W D
Publicado 2004

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

por Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.
Publicado 2019