Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies
| Autor: | Rodan, Lance H., Hauptman, Marissa, D'Gama, Alissa M., Qualls, Anita E., Cao, Siqi, Tuschl, Karin, Al-Jasmi, Fatma, Hertecant, Jozef, Hayflick, Susan J., Wessling-Resnick, Marianne, Yang, Edward T., Berry, Gerard T., Gropman, Andrea, Woolf, Alan D., Agrawal, Pankaj B. |
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| Zdroj: | In Molecular Genetics and Metabolism June 2018 124(2):161-167 |
| Databáze: | ScienceDirect |
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