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Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

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Description scientific article published on 19 September 2017
Author/s

author: Robert Kopajtich  Pedro Rebelo-Guiomar  Sarah E Calvo  Saskia B Wortmann  Kei Murayama  Monica Sciacco  Masakazu Kohda  Akira Ohtake  Caterina Garone  Johannes A Mayr  Zofia M Chrzanowska-Lightowlers  Robert William Taylor  Yoshihito Kishita  Patrick F. Chinnery  Monika Oláhová  Charlotte L Alston  Maurizio Moggio  Yasushi Okazaki  Vamsi Mootha  René G Feichtinger  Robert N Lightowlers  Salvatore DiMauro  Holger Prokisch  Elisa Mastantuono  Michał Mińczuk 

Publication date September 19, 2017
Language English
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