DPYD IVS14+1G>A
MDR1 c. 3435 C>T (p.Ile1145Ile)
Timidilato sintasi TYMS 3’UTR 6bp del
Paraparesi Spastica Familiare – Pannello
32 genes: SPG1 (L1CAM), SPG11, SPG4 (SPAST), SPG20, SPG3A (ATL1), SPG17 (BSCL2), SPG9A (ALDH18A1), SPG35 (FA2H), SPG5A(CYP7B1), SPG6 (NIPA1), SPG2 (PLP1), SPG12 (RTN2), SPG31 (REEP1), SPG10 (KIF5A), SPG50 (AP4M1), SPG51 (AP4E1), SPG47 (AP4B1), SPG52 (AP4S1), SPG15 (ZFYVE26), SPG55 (C12orf65), SPG7, SPG30 (KIF1A), SPG64 (ENTPD1), SPG42 (SLC33A1), SPG9B (ALDH18A1), SPG13 (HSPD1), SPG8 (KIAA0196), SPG18 (ERLIN2), SPG33 […]
