A Novel AMPD2 Mutation Outside the AMP Deaminase Domain Causes Pontocerebellar Hypoplasia Type 9
Ashley PL Marsh, Patrick Yap, Tiong Tan, Kate Pope, Susan M White, Belinda Chong, George Mcgillivray, Amber Boys, Sarah EM Stephenson, Richard J Leventer, Zornitza Stark, Paul J Lockhart
American Journal of Medical Genetics Part A | WILEY | Published : 2017
Awarded by National Health and Medical Research Council (NHMRC) Australia Project
Awarded by NHMRC Career Development Fellowship
The authors thank the family for participating in this study and are grateful for the generous support of the Lefroy and Handbury families. They thank Greta Gillies(MCRI) for assistance with sample preparation. This work was funded in part by National Health and Medical Research Council (NHMRC) Australia Project Grant (GNT1059666). APLM was supported by an Australian Postgraduate Award, RJL was supported by a Melbourne Childrens Clinician Scientist Fellowship and PJL was supported by a NHMRC Career Development Fellowship (GNT1032364). This work was supported by the Victorian Government's Operational Infrastructure Support Program and Australian Government NHMRC IRIISS.