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1 Ergebnisse
1
A recurrent COL6A1 pseudoexon insertion causes muscular dys..:
Bolduc, Véronique
;
Foley, A. Reghan, Reghan
;
Solomon-Degefa, Herimela
...
info:eu-repo/semantics/altIdentifier/doi/10.1172/jci.insight.124403. , 2019
Link:
https://hal.sorbonne-universite.fr/hal-03285227
RT Journal T1
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
UL https://suche.suub.uni-bremen.de/peid=base-ftsorbonneuniv:oai:HAL:hal-03285227v1&Exemplar=1&LAN=DE A1 Bolduc, Véronique A1 Foley, A. Reghan, Reghan A1 Solomon-Degefa, Herimela A1 Sarathy, Apurva A1 Donkervoort, Sandra A1 Hu, Ying A1 Chen, Grace, S A1 Sizov, Katherine A1 Nalls, Matthew A1 Zhou, Haiyan A1 Aguti, Sara A1 Cummings, Beryl, B A1 Lek, Monkol A1 Tukiainen, Taru A1 Marshall, Jamie, L A1 Regev, Oded A1 Marek-Yagel, Dina A1 Sarkozy, Anna A1 Butterfield, Russell, J A1 Jou, Cristina A1 Jimenez-Mallebrera, Cecilia A1 Li, Yan A1 Gartioux, Corine A1 Mamchaoui, Kamel A1 Allamand, Valérie A1 Gualandi, Francesca A1 Ferlini, Alessandra A1 Hanssen, Eric A1 Wilton, Steve, D A1 Lamandé, Shireen, R A1 Macarthur, Daniel, G A1 Wagener, Raimund A1 Muntoni, Francesco A1 Bönnemann, Carsten, G PB HAL CCSD; American Society for Clinical Investigation YR 2019 K1 [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO] JF info:eu-repo/semantics/altIdentifier/doi/10.1172/jci.insight.124403 LK http://dx.doi.org/https://hal.sorbonne-universite.fr/hal-03285227 DO https://hal.sorbonne-universite.fr/hal-03285227 SF ELIB - SuUB Bremen
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