Clinical utility gene card for: achromatopsia.
Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Tuebingen, Tuebingen, Germany. Susanne.kohl@uni-tuebingen.de
Susanne
S
Kohl
Christian P
CP
Hamel
D000367:Age Factors; D002851:Chromatography, High Pressure Liquid; D003117:Color Vision Defects / Q000151:congenital / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6 / Q000235:genetics; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics; D003937:Diagnosis, Differential; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D005139:Eyeglasses; D005787:Gene Frequency; D005808:Genes, Recessive; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics; D006801:Humans; D015994:Incidence; D057130:Leber Congenital Amaurosis / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D011237:Predictive Value of Tests; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D014787:Vision Tests
C518238:CNGA3 protein, human; C415904:CNGB3 protein, human; D054815:Cyclic Nucleotide-Gated Cation Channels; D005136:Eye Proteins; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C096885:PDE6C protein, human; D020962:Heterotrimeric GTP-Binding Proteins
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