Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
Keywords: کت; BSP; 3-sulfopyruvate; CGH; comparative genomic hybridization; COOT; Crystallographic Object-Oriented Toolkit; DMEM; Dulbecco's Modified Eagle Medium; DTT; dithiothreitol; ECHO; echocardiogram; EC50; half maximal effective concentration; EEG; electroenceph