Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
scientific article published on 19 September 2017
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author: Johannes A Mayr, Michał Mińczuk, Masakazu Kohda, Holger Prokisch, Salvatore DiMauro, Patrick F. Chinnery, Maurizio Moggio, Monica Sciacco, Robert William Taylor, Charlotte L Alston, Robert N Lightowlers, Saskia B Wortmann, Zofia M Chrzanowska-Lightowlers, Vamsi Mootha, Yasushi Okazaki, Kei Murayama, Caterina Garone, René G Feichtinger, Yoshihito Kishita, Monika Oláhová, Robert Kopajtich, Elisa Mastantuono, Akira Ohtake, Pedro Rebelo-Guiomar, Sarah E Calvo
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