Oftalmologia

Distrofia dos cones e bastonetes

Lista de Genes
ABCA4, ADAM9, AIPL1
BEST1
CABP4, CACNA1F, CACNA2D4, CDHR1, CEP250, CEP78, CERKL, CFAP418, CNGB3, CNNM4, CRX
GNAT2, GUCA1A, GUCY2D
KCNV2
OPN1LW
PCYT1A, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2
RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RIMS2, RPGR, RPGRIP1
SEMA4A
TTLL5
UNC119
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída