Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies-Reference-Cited by-同舟云学术

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

Published:2017-10 Issue:4 Volume:101 Page:525-538
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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 Maurizio,Sciacco Monica,Comi Giacomo P.,Ronchi Dario,Murayama Kei,Ohtake Akira,Rebelo-Guiomar Pedro,Kohda Masakazu,Kang Dongchon,Mayr Johannes A.,Taylor Robert W.,Okazaki Yasushi,Minczuk Michal,Prokisch Holger

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference43 articles.

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4. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies;Kohda;PLoS Genet.,2016

5. Severe respiratory complex III defect prevents liver adaptation to prolonged fasting;Kremer;J. Hepatol.,2016

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