Sequencing

Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia

P. C. Lee, Lam, H. H., Ghani, S. A., Subrayan, V., and Chua, K. H., Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia, vol. 13, pp. 3553-3559, 2014.

Mutations in the PAX6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population. Therefore, the objective of this study was to investigate the PAX6 mutation in a Malaysian family with congenital aniridia. In this study, a complete ophthalmic examination was performed on a Dusun ethnic family with aniridia.

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