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A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.

Dinesh Kumar KandaswamyK VasanthaJochen GrawSathiyaveedu Thyagarajan Santhiya
Published in: Ophthalmic genetics (2020)
This study identified a novel CRYGC mutation, E128* to cause autosomal dominant congenital nuclear cataract in a large south Indian family. Our study provides a new insight onto how the mutation might affect the γC-crystallin structure and function besides emphasizing the need for genetic diagnosis toward vision restoration.
Keyphrases
  • genome wide
  • copy number