Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Autor:	Adams, David R., Yuan, Hongjie, Holyoak, Todd, Arajs, Katrina H., Hakimi, Parvin, Markello, Thomas C., Wolfe, Lynne A., Vilboux, Thierry, Burton, Barbara K., Fajardo, Karin Fuentes, Grahame, George, Holloman, Conisha, Sincan, Murat, Smith, Ann C.M., Wells, Gordon A., Huang, Yan, Vega, Hugo, Snyder, James P., Golas, Gretchen A., Tifft, Cynthia J., Boerkoel, Cornelius F., Hanson, Richard W., Traynelis, Stephen F., Kerr, Douglas S., Gahl, William A.
Zdroj:	In Molecular Genetics and Metabolism November 2014 113(3):161-170
Databáze:	ScienceDirect
Externí odkaz:	Zobrazit plný text záznamu Full Text from ScienceDirect