Тест 58.
Церебеларна хипоплазия

Мутации в 68 гена, свързани с церебеларна хипоплазия


ADGRG1, AMPD2, ATAD3A, B3GALNT2, B4GAT1, CACNA1G, CASK, CHMP1A, CLP1, CWF19L1, DKC1, EXOSC3, FKRP, FKTN, GMPPB, ISPD, ITPR1, KCNC3, LARGE1, MACF1, OPHN1, PI4KA, POMGNT1, POMGNT2, POMT1, POMT2, PTF1A, RARS2, RELN, ROBO3, SEPSECS, SMPD4, SNX14, SPTBN2, TINF2, TMEM5, TOE1, TSEN2, TSEN34, TSEN54, TUBA1A, TUBB2B, TUBB3, VLDLR, VRK1, WDR81, ATP8A2, C16orf62, CA8, COASY, DAG1, DCC, HEATR5B, PHGDH, TERT, TSEN15, TUBA8, VPS53, BRF1, CDK5, EXOSC8, FRMD4A, NMNAT2, PCLO, PMPCA, POMK, STUB1, TUBB
Срок за изпълнение:
40 работни дни