Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

BOLAR, N. A., GOLZIO, C., ŽIVNÁ, M., HAYOT, G., VAN HEMELRIJK, C., SCHEPERS, D., VANDEWEYER, G., HOISCHEN, A., HUYGHE, J. R., RAES, A., MATTHYS, E., SYS, E., AZOU, M., GUBLER, M. C., PRAET, M., VAN CAMP, G., MCFADDEN, K., PEDIADITAKIS, I., PŘISTOUPILOVÁ, A., HODAŇOVÁ, K., VYLEŤAL, P., HARTMANNOVÁ, H., STRÁNECKÝ, V., HŮLKOVÁ, H., BAREŠOVÁ, V., JEDLIČKOVÁ, I., SOVOVÁ, J., HNÍZDA, A., KIDD, K., BLEYER, A. J., SPONG, R. S., VANDE WALLE, J., MORTIER, G., BRUNNER, H., VAN LAER, L., KMOCH, S., KATSANIS, N., LOEYS, B. L. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. American Journal of Human Genetics. 2016, 99(1), 174-187. ISSN 0002-9297. E-ISSN 1537-6605. Available: doi: 10.1016/j.ajhg.2016.05.028.