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Document type:
Zeitschriftenaufsatz
Author(s):
Feichtinger, René G.; Oláhová, Monika; Kishita, Yoshihito; Garone, Caterina; Kremer, Laura S.; Yagi, Mikako; Uchiumi, Takeshi; Jourdain, Alexis A.; Thompson, Kyle; D’Souza, Aaron R.; Kopajtich, Robert; Alston, Charlotte L.; Koch, Johannes; Sperl, Wolfgang; Mastantuono, Elisa; Strom, Tim M.; Wortmann, Saskia B.; Meitinger, Thomas; Pierre, Germaine; Chinnery, Patrick F.; Chrzanowska-Lightowlers, Zofia M.; Lightowlers, Robert N.; DiMauro, Salvatore; Calvo, Sarah E.; Mootha, Vamsi K.; Moggio, Mauriz...     »
Title:
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Journal title:
The American Journal of Human Genetics
Year:
2017
Journal volume:
101
Journal issue:
4
Pages contribution:
525-538
Fulltext / DOI:
doi:10.1016/j.ajhg.2017.08.015
Publisher:
Elsevier BV
E-ISSN:
0002-9297
Date of publication:
01.10.2017
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