Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
杂合功能丧失型 SEC61A1 突变导致常染色体显性肾小管间质和肾小球囊性肾病伴有贫血
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.05.028
Nikhita Ajit Bolar, Christelle Golzio, Martina Živná, Gaëlle Hayot, Christine Van Hemelrijk, Dorien Schepers, Geert Vandeweyer, Alexander Hoischen, Jeroen R Huyghe, Ann Raes, Erve Matthys, Emiel Sys, Myriam Azou, Marie-Claire Gubler, Marleen Praet, Guy Van Camp, Kelsey McFadden, Igor Pediaditakis, A
