1 | BGIS, GCNT2 |
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group. | |
Borck G, Kakar N, Hoch J, Friedrich K, Freudenberg J, Nürnberg G, Yilmaz R, Daud S, Baloch DM, Nürnberg P, Oldenburg J, Ahmad J, Kubisch C. | |
Hum Genet 131(2):209-16. doi: 10.1007/s00439-011-1062-1. Epub 2011 Jul 15. 2012 | |
2 | BGIS, GCNT2 |
A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. | |
Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF. | |
Invest Ophthalmol Vis Sci 45(6):1940-5. 2004 | |