Article
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.
PloS one - 1 Jan 2013
Dave Alpana, Laurie Kate, Staffieri Sandra E, Taranath Deepa, Mackey David A, Mitchell Paul, Wang Jie Jin, Craig Jamie E, Burdon Kathryn P, Sharma Shiwani
Abstract excerpt
Congenital cataract is the most common cause of treatable visual impairment in children worldwide. Mutations in many different genes lead to congenital cataract. Recently, mutations in the receptor tyrosine kinase gene, EPHA2, have been found to cause congenital cataract in six different families. Although these findings have established EPHA2 as a causative gene, the total contribution of mutations in this gene...
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