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Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

Lookup NU author(s): Dr Michele GiuntaORCiD, Dr Aurora Gomez Duran, Dr Veronika Boczonadi, Professor Rita HorvathORCiD

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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): Giunta M, Edvardson S, Yaobo X, Schuelke M, GomezDuran A, Boczonadi V, Elpeleg O, Muller JS, Horvath R

Publication type: Article

Publication status: Published

Journal: Human Molecular Genetics

Year: 2016

Volume: 25

Issue: 14

Pages: 2985-2996

Print publication date: 15/07/2016

Online publication date: 18/05/2016

Acceptance date: 10/05/2016

Date deposited: 08/12/2016

ISSN (print): 0964-6906

ISSN (electronic): 1460-2083

Publisher: Oxford University Press

URL: http://dx.doi.org/10.1093/hmg/ddw149

DOI: 10.1093/hmg/ddw149

PubMed id: 27193168


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Funding

Funder referenceFunder name
Mitochondrial European Educational Training (MEET)
Wellcome Trust
309548European Research Council
317433ITN MARIE CURIE PEOPLE
G1000848Medical Research Council (UK)

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