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Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
1061-4036
457-464
Lardelli, Rea M.
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Schaffer, Ashleigh E.
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Mande, Rohit
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Markmiller, Sebastian
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Kayserili, Hulya
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Yeo, Gene W.
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Lykke-Andersen, Jens
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Gleeson, Joseph G.
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Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R.C., Zaki, Maha S., Grainger, Stephanie, Sathe, Shashank, Van Nostrand, Eric L., Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Silhavy, Jennifer L., Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L., Markmiller, Sebastian, Marin-valencia, Isaac, Davies, Justin H., De Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Blaser, Susan, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Christesen, Henrik T., Kibaek, Maria, Aldinger, Kimberly A., Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B., Chi, Neil C., Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B., Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke-Andersen, Jens and Gleeson, Joseph G. (2017) Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics, 49 (3), 457-464. (doi:10.1038/ng.3762).

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More information

Accepted/In Press date: 7 December 2016
e-pub ahead of print date: 16 January 2017
Published date: March 2017
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 410151
URI: http://eprints.soton.ac.uk/id/eprint/410151
DOI: doi:10.1038/ng.3762
ISSN: 1061-4036
PURE UUID: dece9493-0e7a-46ed-9fb2-276f8dd3c2ee

Catalogue record

Date deposited: 03 Jun 2017 04:04
Last modified: 15 Mar 2024 12:21

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Contributors

Author: Rea M. Lardelli
Author: Ashleigh E. Schaffer
Author: Veerle R.C. Eggens
Author: Maha S. Zaki
Author: Stephanie Grainger
Author: Shashank Sathe
Author: Eric L. Van Nostrand
Author: Zinayida Schlachetzki
Author: Basak Rosti
Author: Naiara Akizu
Author: Eric Scott
Author: Jennifer L. Silhavy
Author: Laura Dean Heckman
Author: Rasim Ozgur Rosti
Author: Esra Dikoglu
Author: Anne Gregor
Author: Alicia Guemez-Gamboa
Author: Damir Musaev
Author: Rohit Mande
Author: Ari Widjaja
Author: Tim L. Shaw
Author: Sebastian Markmiller
Author: Isaac Marin-valencia
Author: Justin H. Davies
Author: Linda De Meirleir
Author: Hulya Kayserili
Author: Umut Altunoglu
Author: Mary Louise Freckmann
Author: Linda Warwick
Author: David Chitayat
Author: Susan Blaser
Author: Ahmet Okay Çağlayan
Author: Kaya Bilguvar
Author: Huseyin Per
Author: Christina Fagerberg
Author: Henrik T. Christesen
Author: Maria Kibaek
Author: Kimberly A. Aldinger
Author: David Manchester
Author: Naomichi Matsumoto
Author: Kazuhiro Muramatsu
Author: Hirotomo Saitsu
Author: Masaaki Shiina
Author: Kazuhiro Ogata
Author: Nicola Foulds
Author: William B. Dobyns
Author: Neil C. Chi
Author: David Traver
Author: Luigina Spaccini
Author: Stefania Maria Bova
Author: Stacey B. Gabriel
Author: Murat Gunel
Author: Enza Maria Valente
Author: Marie-Cecile Nassogne
Author: Eric J. Bennett
Author: Gene W. Yeo
Author: Frank Baas
Author: Jens Lykke-Andersen
Author: Joseph G. Gleeson

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