Identification of GJA3 p.S50P Mutation in a Chinese Family with Autosomal Dominant Congenital Cataract and Its Underlying Pathogenesis.
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DOI: 10.1089/dna.2020.5605
Abstract: Congenital cataract refers to a lens opacity caused by multiple etiological factors, including genetic mutation, abnormal metabolism of the lens, and infection. Currently, there are >100 known disease-causing genes as well as 60 known mutations… read more here.
Keywords: congenital cataract; gja3; s50p; family ... See more keywords