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

Lookup NU author(s): Dr Monika Olahova, Dr Kyle Thompson, Dr Charlotte Alston, Professor Patrick Chinnery, Professor Zofia Chrzanowska-Lightowlers, Professor Robert Lightowlers, Professor Robert Taylor

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Author(s): Feichtinger RG, Olahova M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H

Publication type: Article

Journal: American Journal of Human Genetics

Year: 2017

Volume: 101

Issue: 4

Pages: 525-538

Online publication date: 21/09/2017

Acceptance date: 11/08/2017

Print publication date: 05/10/2017

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: https://doi.org/10.1016/j.ajhg.2017.08.015

DOI: 10.1016/j.ajhg.2017.08.015


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