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Paper Details

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
Hum Mutat
6
2022
ATP, COX11, COX11 variants, CoQ, adenosine triphosphate, complex IV, copper, human, mitochondrial diseases, mitochondrial encephalopathies, mitochondrial encephalopathy, mutant COX11, mutant COX11 fibroblasts, patients
Author NameAffiliation
Zafer Y??ksel
Alison G ComptonMurdoch Children's Research Institute, Royal Children's Hospital
Alison G ComptonUniversity of Melbourne
Mark J CowleyChildren's Cancer Institute & School of Women's and Children's Health, University of New South Wales
David R ThorburnMurdoch Children's Research Institute, Royal Children's Hospital
David R ThorburnVictorian Clinical Genetics Services, Royal Children's Hospital
David R ThorburnUniversity of Melbourne
John ChristodoulouMurdoch Children's Research Institute, Royal Children's Hospital
John ChristodoulouUniversity of Melbourne
John ChristodoulouSydney Medical School, University of Sydney
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Release 1.2