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Journal Articles (2)

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Investigative Ophthalmology & Visual Science (2)

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Cornea (1)
Retina (1)

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Genetics (2)
Cornea (1)
Eye Anatomy and Disorders (1)
Retina (1)

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genes (2)
mutation (2)
autosomal recessive inheritance (1)
carbohydrates (1)
family (1)
hereditary corneal dystrophy (1)
retinitis pigmentosa (1)
sulfotransferase (1)

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Retina August 2010

Identification of Novel Mutations in the Ortholog of Drosophila Eyes Shut Gene ( EYS ) Causing Autosomal Recessive Retinitis Pigmentosa

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Mai M. Abd El-Aziz; Ciara A. O'Driscoll; Rebecca S. Kaye; Isabel Barragan; Mohamed F. El-Ashry; Salud Borrego; Guillermo Antiñolo; Chi Pui Pang; Andrew R. Webster; Shomi S. Bhattacharya
TAGS: mutation, genes, retinitis pigmentosa, autosomal recessive inheritance
Invest. Ophthalmol. Vis. Sci.. 2010; 51(8):4266-4272. https://doi.org/10.1167/iovs.09-5109

Cornea February 2002

Identification of Novel Mutations in the Carbohydrate Sulfotransferase Gene ( CHST6 ) Causing Macular Corneal Dystrophy

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Mohamed F. El-Ashry; Mai M. Abd El-Aziz; Simon Wilkins; Michael E. Cheetham; Susan E. Wilkie; Alison J. Hardcastle; Stephanie Halford; Ahmed Y. Bayoumi; Linda A. Ficker; Stephen Tuft; Shomi S. Bhattacharya; Neil D. Ebenezer
TAGS: carbohydrates, genes, hereditary corneal dystrophy, mutation, sulfotransferase, family
Invest. Ophthalmol. Vis. Sci.. 2002; 43(2):377-382.

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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