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TITLE: Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
AUTHORS: Rene G Feichtinger; Monika Olahova; Yoshihito Kishita; Caterina Garone; Laura S Kremer; Mikako Yagi; Takeshi Uchiumi; Alexis A Jourdain; Kyle Thompson; Aaron R D'Souza; Robert Kopajtich; Charlotte L Alston; Johannes Koch; Wolfgang Sperl; Elisa Mastantuono; Tim M Strom; Saskia B Wortmann; Thomas Meitinger; Germaine Pierre; Patrick F Chinnery; Zofia M Chrzanowska Lightowlers; Robert N Lightowlers; Salvatore DiMauro; Sarah E Calvo; Vamsi K Mootha; Maurizio Moggio; Monica Sciacco; Giacomo P Comi; Dario Ronchi; Kei Murayama; Akira Ohtake; Pedro Rebelo Guiomar; Masakazu Kohda; Dongchon Kang; Johannes A Mayr; Robert W Taylor; Yasushi Okazaki; Michal Minczuk; Holger Prokisch; ...More
PUBLISHED: 2017, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 101, ISSUE: 4
INDEXED IN: WOS