A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9

作者:Marsh Ashley P L; Yap Patrick; Tan Tiong; Pope Kate; White Susan M; Chong Belinda; Mcgillivray George; Boys Amber; Stephenson Sarah E M; Leventer Richard J; Stark Zornitza; Lockhart Paul J
来源:American Journal of Medical Genetics, Part A, 2017, 173(3): 820-823.
DOI:10.1002/ajmg.a.38076