A Nonsense Mutation in the Glucosaminyl (N-acetyl) Transferase 2 Gene (GCNT2): Association with Autosomal Recessive Congenital Cataracts

Author:

Pras Eran1,Raz Judith2,Yahalom Vered3,Frydman Moshe4,Garzozi Hanna J.5,Pras Elon4,Hejtmancik J. Fielding1

Affiliation:

1. From the Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland; the

2. Department of Ophthalmology, Meir Hospital, Sapir Medical Center, Kfar-Saba, Israel; the

3. National Blood Group Reference Laboratory, Magen David Adom-National Blood Services Center, and the

4. Danek Gartener Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; and the

5. Department of Ophthalmology, Bnai-Zion Medical Center, Haifa, Israel.

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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