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Identification of a novel oligomerization disrupting mutation in CRYAA associated with congenital cataract in a South Australian family
Congenital cataract is a heterogeneous disorder causing severe visual impairment in affected children. We screened four South Australian families with autosomal dominant congenital cataract for mutations in 10 crystallin ...
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.
(Public Library of Science, 2013)
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, ...