Biallelic Mutations in <em>NBAS </em>Cause Recurrent Acute Liver Failure with Onset in Infancy

Haack, TB; Staufner, C; Köpke, MG; Straub, BK; Kölker, S; Thiel, C; Freisinger, P; Baric, I; McKiernan, PJ; Dikow, N; Harting, I; Beisse, F; Burgard, P; Kotzaeridou, U; Kühr, J; Himbert, U; Taylor, RW; Distelmaier, F; Vockley, J; Ghaloul-Gonzalez, L; Zschocke, J; Kremer, LS; Graf, E; Schwarzmayr, T; Bader, DM; Gagneur, J; Wieland, T; Terrile, C; Strom, TM; Meitinger, T; Hoffmann, GF; Prokisch, H

doi:10.1016/j.ajhg.2015.05.009

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Lookup NU author(s): Professor Robert Taylor

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Publication metadata

Author(s): Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2015

Volume: 97

Issue: 1

Pages: 163-169

Print publication date: 02/07/2015

Online publication date: 11/06/2015

Acceptance date: 11/05/2015

Date deposited: 14/07/2015

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/j.ajhg.2015.05.009

DOI: 10.1016/j.ajhg.2015.05.009

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Funding

Funder reference	Funder name
	DFG Fellowship through the Graduate School of Quantitative Biosciences Munich (QBM)
	UK NHS Highly Specialised "Rare Mitochondrial Disorders of Adults and Children" Service
01GM1113C	German Bundesministerium fur Bildung und Forschung (BMBF) through the German Network for mitochondrial disorders (mitoNET)
01GM1207	German Bundesministerium fur Bildung und Forschung (BMBF) through E-Rare project GENOMIT
01ZX1405A	BMBF through the Juniorverbund in der Systemmedizin "mitOmics"
096919/Z/11/Z	Wellcome Trust Strategic Award
1-2	DFG
FKZ 01ZX1405C	BMBF through the Juniorverbund in der Systemmedizin "mitOmics"
STR 1160/1-1	DFG
096919/Z/11/Z	Wellcome Trust

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