A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

Author:

Marsh Ashley P. L.12,Yap Patrick34,Tan Tiong3,Pope Kate1,White Susan M.23,Chong Belinda3,Mcgillivray George3,Boys Amber3,Stephenson Sarah E. M.12,Leventer Richard J.256,Stark Zornitza3,Lockhart Paul J.12

Affiliation:

1. Bruce Lefroy Centre For Genetic Health Research; Murdoch Childrens Research Institute; Royal Children's Hospital; Parkville Victoria Australia

2. Department of Paediatrics; University of Melbourne; Parkville Victoria Australia

3. Victorian Clinical Genetics Services; Murdoch Childrens Research Institute; Parkville Victoria Australia

4. Genetic Health Service New Zealand (Northern Hub); Auckland City Hospital; Auckland New Zealand

5. Neuroscience Research Group; Murdoch Childrens Research Institute; Parkville Victoria Australia

6. Department of Neurology; University of Melbourne; Royal Children's Hospital; Parkville Victoria Australia

Funder

National Health and Medical Research Council (NHMRC) Australia Project

Australian Postgraduate Award

Melbourne Childrens Clinician Scientist Fellowship

NHMRC Career Development Fellowship

Victorian Government's Operational Infrastructure Support Program and Australian Government NHMRC IRIISS

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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