Тест 59.
Артрогрипоза

Мутации в 288 гена, свързани с артрогрипоза


ABHD5, ACADM, ACADS, ACADVL, ACTA1, ADAMTS10, ADCY6, ADGRG6, ADSL, AGL, AGRN, AIMP1, ALG14, ALG2, ALG3, ANO5, ANTXR2, ANXA3, ASCC1, ASXL1, ATAD1, ATP1A2, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, C12orf65, CACNA1E, CAPN3, CAV3, CCDC47, CCDC78, CEP55, CFL2, CHAT, CHCHD10, CHKB, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCF1, CNTN1, CNTNAP1, COASY, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, CPT2, CRLF1, CRYAB, CTDP1, CUL4B, DAG1, DES, DHCR24, DMD, DMPK, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DUX4, DYNC1H1, DYSF, EBP, ECEL1, EGR2, EMD, ERBB3, ERCC1, ERCC5, ERCC6, ERCC8, ERGIC1, ETFA, ETFB, ETFDH, EXOSC3, EXOSC9, FAM111B, FAM20C, FBN2, FGFR2, FGFR3, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNA, FLNB, FLNC, GAA, GARS, GBA, GBE1, GDAP1, GFER, GFM2, GFPT1, GLDN, GLE1, GMPPB, GNE, GRN, HADH, HADHA, HADHB, HNRNPA1, HRAS, HSPG2, IBA57, IGHMBP2, IRF6, ISCU, ISLR2, ISPD, ITGA7, KAT6B, KBTBD13, KIAA1109, KIDINS220, KIF5C, KLHL40, KLHL41, KLHL7, L1CAM, LAMA2, LAMP2, LARGE1, LDB3, LGI4, LMNA, LMOD3, LMX1B, LPIN1, MAGEL2, MATR3, MED12, MEGF10, MFN2, MICU1, MPZ, MTM1, MTMR1, MT-TL1, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYLPF, MYMK, MYO9A, MYOD1, MYOT, NALCN, NEB, NEFL, NEK9, NUP88, ORAI1, PABPN1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PI4KA, PIEZO2, PIGS, PIP5K1C, PLEC, PLOD1, PLOD2, PNPLA2, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PRG4, PSD3, PUS1, PYGM, RAPSN, RBCK1, RIPK4, RRM2B, RYR1, SCARF2, SCN1A, SCN4A, SCYL2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SKI, SLC18A3, SLC22A5, SLC25A4, SLC25A42, SLC29A3, SLC35A3, SLC52A3, SLC5A7, SLC6A9, SMAD3, SMAD4, SMCHD1, SMN1, SMPD4, STAC3, STIM1, STIM2, SYNE1, SYNE2, SYT2, TBCD, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM43, TMEM5, TNNI2, TNNT1, TNNT3, TOR1A, TOR1AIP1, TPM2, TPM3, TRIM32, TRIP4, TRPV4, TSEN2, TSEN34, TSEN54, TTN, UBA1, UNC50, UTRN, VAMP1, VCP, VIPAS39, VPS33B, VPS8, YARS2, ZC4H2, ZMPSTE24, ZNF335
Срок за изпълнение:
50 работни дни