Тест 70.
Левкодистрофия с мозъчни калцификати

Мутации в 232 гена, свързани с левкодистрофия с мозъчни калцификати


AARS, AARS2, ABCD1, ABHD16A, ACBD5, ACER3, ACOX1, ACP5, ADAR, ADGRG1, AIFM1, AIMP1, ALDH3A2, AP1S2, AP4B1, APOPT1, ARSA, ARX, ASPA, ATP11A, ATP7A, ATPAF2, AUH, BCAP31, BCS1L, BOLA3, CIC, CLCN2, CLDN11, CLPP, CNP, CNTNAP1, COA7, COL4A1, COLGALT1, COQ2, COQ8A, COQ9, COX10, COX15, CSF1R, CTC1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS, DARS2, DCAF17, DCX, DDB1, DDB2, DEGS1, DGUOK, DPYD, EARS2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL1, EPRS, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ETFDH, FA2H, FAM126A, FARSA, FIG4, FLVCR2, FOLR1, FUCA1, GALC, GBE1, GFAP, GFM1, GJA1, GJB1, GJC2, GLB1, GLRX5, GTF2E2, GTF2H5, HEPACAM, HEXA, HIKESHI, HMBS, HSD17B4, HSPD1, HTRA1, IBA57, IFIH1, ISCA1, ISCA2, JAM3, KIAA1161, KIF5A, L2HGDH, LAMB1, LIG3, LMNB1, LSM7, LYRM7, MAT1A, MCOLN1, MEF2C, MFF, MLC1, MPLKIP, MPZ, MRE11, MRPS16, MTFMT, NAXD, NAXE, NDE1, NDUFA2, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NFU1, NKX6-2, NOTCH3, NUBPL, NUP188, OCLN, OCRL, PAFAH1B1, PCDH12, PDGFB, PDGFRB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHGDH, PI4KA, PLP1, PMP22, POLG, POLG2, POLH, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PPT1, PRF1, PSAP, PTEN, PYCR2, RAB11B, RARS, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF220, RNU7-1, RPIA, RRM2B, SAMHD1, SCAF4, SCN2A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SLC13A5, SLC16A2, SLC17A5, SLC20A2, SLC25A1, SLC25A12, SLC25A4, SNORD118, SOX10, SPART, SPG11, SPG7, STN1, SUCLA2, SUMF1, SURF1, TACO1, TMEM106B, TMEM63A, TREM2, TREX1, TUBA1A, TUBA8, TUBB2B, TUBB4A, TUFM, TWNK, TYMP, TYROBP, UFM1, UNC13D, USP18, VPS11, WARS2, XPA, XPC, XPR1, ZFYVE26
Срок за изпълнение:
50 работни дни