A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
Li, Zejuan, Schonberg, Rhonda, Guidugli, Lucia, Johnson, Amy Knight, Arnovitz, Stephen, Yang, Sandra, Scafidi, Joseph, Summar, Marshall L, Vezina, Gilbert, Das, Soma, Chapman, Kimberly, del Gaudio, DaVolume:
60
Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2015.31
Date:
July, 2015
File:
PDF, 898 KB
english, 2015