المؤلفون: Vadim A. Tsargush, Roman V. Deev, Angelina Titova, V.L. Zorin, Patimat G. Akhmedova, Isaev Artur Aleksandrovich, M O Mavlikeev, C. Gartioux, Sergey N. Bardakov, Raisat M. Magomedova, Fedor A. Konovalov, Valérie Allamand, Zoya R. Umakhanova, Ekaterina N. Chernets, Gimat D. Dalgatov, Kamil Z. Zulfugarov

المساهمون: Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Kazan Federal University (KFU), Centre de recherche en Myologie – U974 SU-INSERM

المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2020, pp.1-12. ⟨10.3233/JND-200476⟩

مصطلحات موضوعية: 0301 basic medicine, Research Report, Male, medicine.medical_specialty, Contracture, Genotype, Ullrich congenital muscular dystrophy, [SDV]Life Sciences [q-bio], COL6A1, Mutation, Missense, Collagen Type VI, Biology, leaky splicing, Muscular Dystrophies, 03 medical and health sciences, Exon, 0302 clinical medicine, type VI collagen, Collagen VI, Internal medicine, fibroblasts, medicine, Missense mutation, Humans, Sibling, Myopathy, collagenopathy, Bethlem myopathy, Infant, Exons, Middle Aged, medicine.disease, contractures, Introns, 030104 developmental biology, Endocrinology, Phenotype, Neurology, Biological Variation, Population, myosclerotic phenotype of Bethlem myopathy, Mutation, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be2f1397fdf700dced3ab8143a7c49f6
http://europepmc.org/articles/PMC8075389

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