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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
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SYSNO 0463462 Title Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Author(s) Bolar, N. A. (BE)
Golzio, C. (US)
Živná, M. (CZ)
Hayot, G. (US)
Van Hemelrijk, C. (BE)
Schepers, D. (BE)
Vandeweyer, G. (BE)
Hoischen, A. (NL)
Huyghe, J. R. (BE)
Raes, A. (BE)
Matthys, E. (BE)
Sys, E. (BE)
Azou, M. (BE)
Gubler, M. C. (FR)
Praet, M. (BE)
Van Camp, G. (BE)
McFadden, K. (US)
Pediaditakis, I. (US)
Přistoupilová, A. (CZ)
Hodaňová, K. (CZ)
Vyleťal, P. (CZ)
Hartmannová, H. (CZ)
Stránecký, V. (CZ)
Hůlková, H. (CZ)
Barešová, V. (CZ)
Jedličková, I. (CZ)
Sovová, J. (CZ)
Hnízda, Aleš (UOCHB-X) [930/93]
Kidd, K. (US)
Bleyer, A. J. (US)
Spong, R. S. (US)
Vande Walle, J. (BE)
Mortier, G. (BE)
Brunner, H. (NL)
Van Laer, L. (BE)
Kmoch, S. (CZ)
Katsanis, N. (US)
Loeys, B. L. (BE)Corespondence/senior Loeys, B. L. - Korespondující autor Source Title American Journal of Human Genetics. Roč. 99, č. 1 (2016), s. 174-187. - : Cell Press Document Type Článek v odborném periodiku Grant LO1304 GA MŠMT - Ministry of Education, Youth and Sports (MEYS), CZ - Czech Republic Institutional support UOCHB-X - RVO:61388963 Language eng Country US Keywords Sec61 * tubulo-interstitial kidney disease * rare disease Cooperating institutions Univerzita Karlova v Praze (Czech Republic) URL http://www.sciencedirect.com/science/article/pii/S0002929716301999 Permanent Link http://hdl.handle.net/11104/0262678
Number of the records: 1