Abnormal function of EPHA2/p.R957P mutant in congenital cataract
Jing-Jin Zhang,
Bi-Ting Zhou,
Ju-Hua Yang
et al.
Abstract:AIM: To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity.
METHODS: A four-generation Chinese family affected with autosomal dominant congenital cataract was recruited. Nineteen individuals took part in this study including 5 affected and 14 unaffected individuals. Sanger sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant discovery. The pathogenicity of the variant was evaluated by the guidelines of American… Show more
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