A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency
| Autor: | Pronicki, Maciej, Kowalski, Paweł, Piekutowska-Abramczuk, Dorota, Taybert, Joanna, Karkucinska-Wieckowska, Agnieszka, Szymanska-Debinska, Tamara, Karczmarewicz, Elzbieta, Pajdowska, Magdalena, Migdal, Marek, Milewska-Bobula, Bogumila, Sykut-Cegielska, Jolanta, Popowska, Ewa |
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| Zdroj: | In European Journal of Paediatric Neurology 2010 14(3):253-260 |
| Databáze: | ScienceDirect |
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