Kohl, Susanne

Clinical utility gene card for: blue cone monochromatism. [electronic resource] - European journal of human genetics : EJHG Jun 2011

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2010.232 doi


Age Factors
Color Vision Defects--diagnosis
Diagnosis, Differential
Eyeglasses
Female
Gene Frequency
Genetic Diseases, X-Linked--diagnosis
Humans
Incidence
Leber Congenital Amaurosis--diagnosis
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Predictive Value of Tests
Retinitis Pigmentosa--diagnosis
Risk Factors
Rod Opsins--genetics
Sequence Analysis, DNA
Sex Factors
Vision Tests