A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
Ashley P L
AP
Marsh
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.|Genetic Health Service New Zealand (Northern Hub), Auckland City Hospital, Auckland, New Zealand.
Patrick
P
Yap
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Tiong
T
Tan
Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Kate
K
Pope
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.|Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Susan M
SM
White
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Belinda
B
Chong
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
George
G
Mcgillivray
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Amber
A
Boys
Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
Sarah E M
SE
Stephenson
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.|Neuroscience Research Group, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.|Department of Neurology, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
Richard J
RJ
Leventer
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
Zornitza
Z
Stark
Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
Paul J
PJ
Lockhart
D000659:AMP Deaminase / Q000235:genetics*; D002526:Cerebellar Diseases / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D000072417:Protein Domains / Q000235:genetics*
D000659:AMP Deaminase; C475566:AMPD2 protein, human