Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells
| Autor: | Jędrzejowska, Maria, Madej-Pilarczyk, Agnieszka, Fidziańska, Anna, Mierzewska, Hanna, Pronicka, Ewa, Obersztyn, Ewa, Gos, Monika, Pronicki, Maciej, Kmieć, Tomasz, Migdał, Marek, Mierzewska-Schmidt, Magdalena, Walczak-Wojtkowska, Iwona, Konopka, Elżbieta, Hausmanowa-Petrusewicz, Irena |
|---|---|
| Zdroj: | In European Journal of Paediatric Neurology March 2014 18(2):183-192 |
| Databáze: | ScienceDirect |
| Externí odkaz: |
|
Full Text from ScienceDirect