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

Giunta, Michele; Edvardson, Shimon; Xu, Yaobo; Schuelke, Markus; Gomez-Duran, Aurora; Boczonadi, Veronika; Elpeleg, Orly; Müller, Juliane S; Horvath, Rita

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Authors

Giunta, Michele

Edvardson, Shimon

Xu, Yaobo

Schuelke, Markus

Gomez-Duran, Aurora

Boczonadi, Veronika

Elpeleg, Orly

Publication Date

2016-07

Journal Title

Human molecular genetics

ISSN

0964-6906

Volume

Issue

Pages

2985-2996

Language

eng

Type

Article

This Version

VoR

Physical Medium

Print-Electronic

Metadata

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Citation

Giunta, M., Edvardson, S., Xu, Y., Schuelke, M., Gomez-Duran, A., Boczonadi, V., Elpeleg, O., et al. (2016). Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.. Human molecular genetics, 25 (14), 2985-2996. https://doi.org/10.1093/hmg/ddw149

Keywords

Cerebellum, Motor Neurons, Animals, Zebrafish, Humans, Muscular Atrophy, Spinal, Disease Models, Animal, RNA-Binding Proteins, Sequence Analysis, RNA, Mutation, Exosomes, Exosome Multienzyme Ribonuclease Complex

Sponsorship

Wellcome Trust (109915_A_15_Z)

Identifiers

External DOI: https://doi.org/10.1093/hmg/ddw149

This record's URL: https://www.repository.cam.ac.uk/handle/1810/290353

Rights

Attribution 4.0 International

Licence URL: https://creativecommons.org/licenses/by/4.0/

Except where otherwise noted, this item's licence is described as Attribution 4.0 International