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1 Ergebnisse
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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autos..:
Bolar, Nikhita Ajit
;
Golzio, Christelle
;
Živná, Martina
...
The American Journal of Human Genetics. 99 (2016) 1 - p. 174-187 , 2016
Link:
https://doi.org/10.1016/j.ajhg.2016.05.028
RT Journal T1
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2016.05.028&Exemplar=1&LAN=DE A1 Bolar, Nikhita Ajit A1 Golzio, Christelle A1 Živná, Martina A1 Hayot, Gaëlle A1 Van Hemelrijk, Christine A1 Schepers, Dorien A1 Vandeweyer, Geert A1 Hoischen, Alexander A1 Huyghe, Jeroen R. A1 Raes, Ann A1 Matthys, Erve A1 Sys, Emiel A1 Azou, Myriam A1 Gubler, Marie-Claire A1 Praet, Marleen A1 Van Camp, Guy A1 McFadden, Kelsey A1 Pediaditakis, Igor A1 Přistoupilová, Anna A1 Hodaňová, Kateřina A1 Vyleťal, Petr A1 Hartmannová, Hana A1 Stránecký, Viktor A1 Hůlková, Helena A1 Barešová, Veronika A1 Jedličková, Ivana A1 Sovová, Jana A1 Hnízda, Aleš A1 Kidd, Kendrah A1 Bleyer, Anthony J. PB Elsevier BV YR 2016 SN 0002-9297 JF The American Journal of Human Genetics VO 99 IS 1 SP 174 OP 187 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2016.05.028 DO https://doi.org/10.1016/j.ajhg.2016.05.028 SF ELIB - SuUB Bremen
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