Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
NBAS 的双等位基因突变导致婴儿期复发性急性肝衰竭
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.05.009
Tobias B Haack, Christian Staufner, Marlies G Köpke, Beate K Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W Taylor, Felix Distelmaier, Jerr