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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Lookup NU author(s): Dr Monika Olahova, Dr Kyle Thompson, Professor Bobby McFarlandORCiD, Professor Robert Taylor

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Publication metadata

Author(s): Olahova M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Fresard L, Waggott D, Zink EM, Kim Y-M, Heyman HM, Stratton KG, Webb-Robertson B-JM, Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2018

Volume: 102

Issue: 3

Pages: 494-504

Print publication date: 01/03/2018

Online publication date: 22/02/2018

Acceptance date: 26/01/2018

Date deposited: 19/03/2018

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: https://doi.org/10.1016/j.ajhg.2018.01.020

DOI: 10.1016/j.ajhg.2018.01.020


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Funding

Funder referenceFunder name
203105/Z/16/ZWellcome Trust
G0800674
I 2741-B26
U01TR001395
U54NS093793
UL1TR001085
P50HG007735
S10 RR026780
U01HG007708
U01HG007942

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