A Novel Cx50 Insert Mutation from a Chinese Congenital Cataract Family Impairs Its Cellular Membrane Localization and Function.
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DOI: 10.1089/dna.2017.4051
Abstract: Mutations in GJA8 are associated with hereditary autosomal dominant and recessive cataract formation. In this study, a novel insert mutation in GJA8 was identified in a Chinese congenital cataract family and cosegregated with the disease… read more here.
Keywords: cx50 insert; cx50; cataract; membrane ... See more keywords