Genotyping Microarray for CSNB-Associated Genes

PURPOSE. Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. Although electroretinographic (ERG) measurements can discriminate clinical subgroups, the identification of the underlying genetic defects has been complicated for CSNB because of genetic heterogeneity, the uncertainty about the mode of inheritance, and time-consuming and costly mutation scanning and direct sequencing approaches.


Published in:
Investigative Ophthalmology & Visual Science, 50, 5919-5926
Year:
2009
Keywords:
Laboratories:




 Record created 2010-11-30, last modified 2018-09-13


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