Тест 56.
Наследствени невропатии

Мутации в 281 гена, свързани с наследствени моторни и сензорни невропатии


AARS, ABCA1, ABCC9, ABHD12, ACTC1, ACTN2, AGTPBP1, AGXT, AIFM1, ALDH3A2, ANKRD1, AP1S1, APOA1, APTX, ARHGEF10, ARL6IP1, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BRAF, BSCL2, C12orf65, C19orf12, C1orf194, CACNB4, CASQ2, CAV3, CCT5, CD59, CHCHD10, CLTCL1, CNTNAP1, COA7, COQ8A, COX6A1, CPOX, CRYAB, CSRP3, CTDP1, CYP27A1, DARS2, DCAF8, DCTN1, DEGS1, DES, DGUOK, DHH, DHTKD1, DMD, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DSC2, DSG2, DSP, DST, DSTYK, DTNA, DYNC1H1, EGR2, ELP1, EMD, ERBB3, ERCC6, ERCC8, ETFDH, FA2H, FAH, FAM126A, FBLN5, FBXO38, FGD4, FGF14, FIG4, FKTN, FLVCR1, FXN, GAA, GALC, GAN, GARS, GATAD1, GBA2, GDAP1, GJB1, GJC2, GLA, GLE1, GNB4, HADHA, HADHB, HARS, HINT1, HK1, HMBS, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, IARS2, IGHMBP2, INF2, ITPR1, JAG1, JPH2, JUP, KARS, KCNA1, KCNA2, KCNC3, KIF1A, KIF1B, KIF5A, KLC2, KRAS, L1CAM, LAMA4, LAMP2, LAS1L, LDB3, LITAF, LMNA, LRSAM1, LYST, MAP1B, MAP2K1, MAP2K2, MARS, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MRE11, MT-ATP6, MTMR2, MT-RNR1, MT-TL1, MTTP, MYBPC3, MYH14, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NAGA, NAGLU, NDRG1, NEBL, NEFH, NEFL, NEXN, NGF, NIPA1, NRAS, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDLIM3, PDYN, PEX10, PEX7, PHYH, PKP2, PLEKHG5, PLN, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKAG2, PRKCG, PRNP, PRPS1, PRX, PTEN, PTPN11, PTRH2, RAB7A, RAF1, RBM20, REEP1, RETREG1, RIT1, RYR2, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN5A, SCN9A, SCP2, SCYL1, SELENOI, SETX, SGCD, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC1A3, SLC25A19, SLC25A46, SLC52A1, SLC52A2, SLC52A3, SLC5A7, SMN1, SORD, SOS1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TAZ, TCAP, TDP1, TFG, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRIM2, TRPA1, TRPV4, TTBK2, TTN, TTPA, TTR, TUBB3, TWNK, TYMP, VCL, VCP, VPS13A, VRK1, VWA1, WARS, WASHC5, WNK1, XK, XPA, XRCC1, YARS, ZFYVE26, ZFYVE27
Срок за изпълнение:
50 работни дни