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A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
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| Zeitschriftentitel: | JCI Insight |
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| Personen und Körperschaften: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| In: | JCI Insight, 4, 2019, 6 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
American Society for Clinical Investigation
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| Schlagwörter: |
| author_facet |
Bolduc, Véronique Foley, A. Reghan Solomon-Degefa, Herimela Sarathy, Apurva Donkervoort, Sandra Hu, Ying Chen, Grace S. Sizov, Katherine Nalls, Matthew Zhou, Haiyan Aguti, Sara Cummings, Beryl B. Lek, Monkol Tukiainen, Taru Marshall, Jamie L. Regev, Oded Marek-Yagel, Dina Sarkozy, Anna Butterfield, Russell J. Jou, Cristina Jimenez-Mallebrera, Cecilia Li, Yan Gartioux, Corine Mamchaoui, Kamel Allamand, Valérie Gualandi, Francesca Ferlini, Alessandra Hanssen, Eric Wilton, Steve D. Lamandé, Shireen R. MacArthur, Daniel G. Wagener, Raimund Muntoni, Francesco Bönnemann, Carsten G. Bolduc, Véronique Foley, A. Reghan Solomon-Degefa, Herimela Sarathy, Apurva Donkervoort, Sandra Hu, Ying Chen, Grace S. Sizov, Katherine Nalls, Matthew Zhou, Haiyan Aguti, Sara Cummings, Beryl B. Lek, Monkol Tukiainen, Taru Marshall, Jamie L. Regev, Oded Marek-Yagel, Dina Sarkozy, Anna Butterfield, Russell J. Jou, Cristina Jimenez-Mallebrera, Cecilia Li, Yan Gartioux, Corine Mamchaoui, Kamel Allamand, Valérie Gualandi, Francesca Ferlini, Alessandra Hanssen, Eric Wilton, Steve D. Lamandé, Shireen R. MacArthur, Daniel G. Wagener, Raimund Muntoni, Francesco Bönnemann, Carsten G. |
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| author |
Bolduc, Véronique Foley, A. Reghan Solomon-Degefa, Herimela Sarathy, Apurva Donkervoort, Sandra Hu, Ying Chen, Grace S. Sizov, Katherine Nalls, Matthew Zhou, Haiyan Aguti, Sara Cummings, Beryl B. Lek, Monkol Tukiainen, Taru Marshall, Jamie L. Regev, Oded Marek-Yagel, Dina Sarkozy, Anna Butterfield, Russell J. Jou, Cristina Jimenez-Mallebrera, Cecilia Li, Yan Gartioux, Corine Mamchaoui, Kamel Allamand, Valérie Gualandi, Francesca Ferlini, Alessandra Hanssen, Eric Wilton, Steve D. Lamandé, Shireen R. MacArthur, Daniel G. Wagener, Raimund Muntoni, Francesco Bönnemann, Carsten G. |
| spellingShingle |
Bolduc, Véronique Foley, A. Reghan Solomon-Degefa, Herimela Sarathy, Apurva Donkervoort, Sandra Hu, Ying Chen, Grace S. Sizov, Katherine Nalls, Matthew Zhou, Haiyan Aguti, Sara Cummings, Beryl B. Lek, Monkol Tukiainen, Taru Marshall, Jamie L. Regev, Oded Marek-Yagel, Dina Sarkozy, Anna Butterfield, Russell J. Jou, Cristina Jimenez-Mallebrera, Cecilia Li, Yan Gartioux, Corine Mamchaoui, Kamel Allamand, Valérie Gualandi, Francesca Ferlini, Alessandra Hanssen, Eric Wilton, Steve D. Lamandé, Shireen R. MacArthur, Daniel G. Wagener, Raimund Muntoni, Francesco Bönnemann, Carsten G. JCI Insight A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies General Medicine |
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Bolduc, Véronique Foley, A. Reghan Solomon-Degefa, Herimela Sarathy, Apurva Donkervoort, Sandra Hu, Ying Chen, Grace S. Sizov, Katherine Nalls, Matthew Zhou, Haiyan Aguti, Sara Cummings, Beryl B. Lek, Monkol Tukiainen, Taru Marshall, Jamie L. Regev, Oded Marek-Yagel, Dina Sarkozy, Anna Butterfield, Russell J. Jou, Cristina Jimenez-Mallebrera, Cecilia Li, Yan Gartioux, Corine Mamchaoui, Kamel Allamand, Valérie Gualandi, Francesca Ferlini, Alessandra Hanssen, Eric Wilton, Steve D. Lamandé, Shireen R. MacArthur, Daniel G. Wagener, Raimund Muntoni, Francesco Bönnemann, Carsten G. 2379-3708 American Society for Clinical Investigation General Medicine http://dx.doi.org/10.1172/jci.insight.124403 A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies JCI Insight |
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| title |
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_unstemmed |
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_full |
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_fullStr |
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_full_unstemmed |
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_short |
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_sort |
a recurrent col6a1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
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General Medicine |
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http://dx.doi.org/10.1172/jci.insight.124403 |
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| spelling | Bolduc, Véronique Foley, A. Reghan Solomon-Degefa, Herimela Sarathy, Apurva Donkervoort, Sandra Hu, Ying Chen, Grace S. Sizov, Katherine Nalls, Matthew Zhou, Haiyan Aguti, Sara Cummings, Beryl B. Lek, Monkol Tukiainen, Taru Marshall, Jamie L. Regev, Oded Marek-Yagel, Dina Sarkozy, Anna Butterfield, Russell J. Jou, Cristina Jimenez-Mallebrera, Cecilia Li, Yan Gartioux, Corine Mamchaoui, Kamel Allamand, Valérie Gualandi, Francesca Ferlini, Alessandra Hanssen, Eric Wilton, Steve D. Lamandé, Shireen R. MacArthur, Daniel G. Wagener, Raimund Muntoni, Francesco Bönnemann, Carsten G. 2379-3708 American Society for Clinical Investigation General Medicine http://dx.doi.org/10.1172/jci.insight.124403 A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies JCI Insight |
| spellingShingle | Bolduc, Véronique, Foley, A. Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S., Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan, Aguti, Sara, Cummings, Beryl B., Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L., Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J., Jou, Cristina, Jimenez-Mallebrera, Cecilia, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valérie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric, Wilton, Steve D., Lamandé, Shireen R., MacArthur, Daniel G., Wagener, Raimund, Muntoni, Francesco, Bönnemann, Carsten G., JCI Insight, A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies, General Medicine |
| title | A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_full | A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_fullStr | A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_full_unstemmed | A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_short | A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_sort | a recurrent col6a1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| title_unstemmed | A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies |
| topic | General Medicine |
| url | http://dx.doi.org/10.1172/jci.insight.124403 |