Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
| Autor: | Barington, Maria, Dunø, Morten, Birkedal, Ulf, Vissing, John, Born, Alfred Peter, Krag, Thomas, Hansen, Thomas van Overeem, Østergaard, Elsebet |
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| Zdroj: | In Neuromuscular Disorders July 2023 33(7):539-545 |
| Databáze: | ScienceDirect |
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