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