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Investigative Ophthalmology & Visual Science (2)

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ARVO Annual Meeting Abstract September 2016

Whole Exome Sequencing Identifies Mutations in GNB3 to Cause a Novel Congenital Stationary Night Blindness Phenotype

Ajoy Vincent; Erika Tavares; Isabelle S Audo; jason maynes; Shuning Li; Christelle Michiels; Anupreet Tumber; Heather Macdonald; Chelsea Roadhouse; Christina Zeitz; Elise Heon

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

Genetics May 2016

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

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Ajoy Vincent; Judith Ng; Christina Gerth-Kahlert; Erika Tavares; Jason T. Maynes; Thomas Wright; Amit Tiwari; Anupreet Tumber; Shuning Li; James V. M. Hanson; Angela Bahr; Heather MacDonald; Luzy Bähr; Carol Westall; Wolfgang Berger; Frans P. M. Cremers; Anneke I. den Hollander; Elise Héon
TAGS: autosomal recessive inheritance, family, genetics, mutation, phenotype, retinoschisis, eye, relationship - sibling, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(6):2637-2646. doi: https://doi.org/10.1167/iovs.15-18281

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Online ISSN: 1552-5783

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

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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