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A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy
Authors:Lucarini Laura  Giusti Betti  Zhang Rui-Zhu  Pan Te-Cheng  Jimenez-Mallebrera Cecilia  Mercuri Eugenio  Muntoni Francesco  Pepe Guglielmina  Chu Mon-Li
Institution:(1) Department of Medical and Surgical Critical Care and Center of Research, Transfer and High Education, MCIDNENT, University of Florence, viale Morgagni 85, 50134 Florence, Italy;(2) Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, 233 South 10th Street, Philadelphia, PA 19107, USA;(3) Dubowitz Neuromuscular Centre, Department of Paediatrics & Neonatal Medicine, Imperial College, London, UK;(4) Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, Pa., USA
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