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EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS

PURPOSE: Congenital cataract is a leading cause of childhood blindness. Mutations in the EPHA2 gene are one of the causes of inherited congenital cataract. The EPHA2 gene encodes a membrane-bound tyrosine kinase receptor and is highly expressed in epithelial cells, including in the ocular lens. Sign...

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Publié dans:Mol Vis
Auteurs principaux: Dave, Alpana, Martin, Sarah, Kumar, Raman, Craig, Jamie E., Burdon, Kathryn P., Sharma, Shiwani
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2016
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4734147/
https://ncbi.nlm.nih.gov/pubmed/26900323
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