A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

Johanna L. Jones, Mark A. Corbett, Elise Yeaman, Duran Zhao, Jozef Gecz, Robert J. Gasperini, Jac C. Charlesworth, David A. Mackey, James E. Elder, Jamie E. Craig, Kathryn P. Burdon

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology