Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Author:

Alston Charlotte L.,Heidler Juliana,Dibley Marris G.,Kremer Laura S.,Taylor Lucie S.,Fratter Carl,French Courtney E.,Glasgow Ruth I.C.,Feichtinger René G.,Delon Isabelle,Pagnamenta Alistair T.,Dolling Helen,Lemonde Hugh,Aiton Neil,Bjørnstad Alf,Henneke Lisa,Gärtner Jutta,Thiele Holger,Tauchmannova Katerina,Quaghebeur Gerardine,Houstek Josef,Sperl Wolfgang,Raymond F. Lucy,Prokisch Holger,Mayr Johannes A.,McFarland Robert,Poulton Joanna,Ryan Michael T.,Wittig Ilka,Henneke Marco,Taylor Robert W.

Funder

Wellcome Centre for Mitochondrial Research

MRC Centre for Neuromuscular Diseases

NIHR Biomedical Research Centre in Age and Age Related Diseases

Newcastle Molecular Pathology Node

NHS Highly Specialised Service for Rare Mitochondrial Disorders

Lily Foundation

Georg August University Göttingen Faculty of Medicine research program

Deutsche Forschungsgemeinschaft

Centre of Mitochondrial Biology and Pathology

Czech Science Foundation

German Bundesministerium für Bildung und Forschung

German Network for Mitochondrial Disorders

E-Rare project GENOMIT

EU Horizon2020 Collaborative Research Project SOUND

Wellcome Trust

NIHR Biomedical Research Centre Oxford

NIHR

MRC

Australian National Health and Medical Research Council

Australian Mitochondrial Disease Foundation

Austrian Science Fonds

Rosetrees Trust

Cambridge Biomedical Research Centre

NIHR BioResource

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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