Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
由于 BCS1L 突变导致的呼吸链复合物 III 缺乏症：一种具有脑肌病的新表型，在 Bcs1l 突变小鼠模型中部分表型复制
期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-017-0624-2
Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A Eklund, Vineta Fellman
