NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
| Autor: | Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F., Parman, Yesim, Kaymakçalan, Hande, Akgumus, Gozde Tugce, Caglar, Caner, Dolen, Duygu, Erson-Omay, Emine Zeynep, Harmanci, Akdes Serin, Mishra-Gorur, Ketu, Freeze, Hudson H., Yasuno, Katsuhito, Bilguvar, Kaya, Gunel, Murat |
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| Zdroj: | In European Journal of Medical Genetics January 2015 58(1):39-43 |
| Databáze: | ScienceDirect |
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Full Text from ScienceDirect