ACHM1Achromatopsia 1
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A type of achromatopsia previously identified as ACHM1 was later found to be the same as ACHM3 caused by cyclic nucleotide-gated channel beta-3 (CNGB3) gene (MIM 605080).8 Among other genes are included cyclic nucleotide-gated channel alpha-3 (CNGA3; MIM 600053) causing ACHM29, Guanine nucleotide-binding protein G subunit [alpha]-2 (GNAT2; MIM 139340) causing ACHM4, 10 phosphodiesterase 6C (PDE6C; MIM 613093) causing ACHM5, 11 cone inhibitory phosphodiesterase 6H (PDE6H; MIM 601190) causing ACHM612 and activating transcription factor 6 (ATF6; MIM 605537) causing ACHM7.13 The current study was planned to report two Pakistani families that were initially evaluated as having nystagmus phenotype.