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A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy

Year: 2017
Type: article
Study design: Observational Study
DOI: 10.1016/j.nmd.2017.06.055
Authors: A. Reghan Foley, S. Donkervoort, V. Bolduc, Y. Hu, B. Cummings, M. Lek, A. Sarkozy, C. Jimenez-Mallebrera, R. Butterfield, S. Lamande, J. Kirschner, V. Allamand, T. Stojkovic, S. Quijano-Roy, F. Gualandi, A. Ferlini, E. Bertini, D. MacArthur, F. Muntoni, C. Bönnemann
Institutions: National Institutes of Health, National Institute of Neurological Disorders and Stroke, Broad Institute, Harvard University, Massachusetts General Hospital, University College London, Hospital Sant Joan de Déu Barcelona, University of Utah, Murdoch Children's Research Institute, University of Freiburg, University Medical Center Freiburg, Centre National de la Recherche Scientifique, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Université Pierre-et-Marie-Curie, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Université de Versailles Saint-Quentin-en-Yvelines, Hôpital Raymond-Poincaré, University of Ferrara, Bambino Gesù Children's Hospital
Language: English
Open Access status: closed
OpenAlex ID: W2755702707
FWCI:
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Cited by: 1
Related to: 10