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Vincent AL, Carroll J, Fishman GA, et al. . Transl Vis Sci Technol. 2013;2(2):4doi: 10.1167/tvst.2.2.4.
Vincent, A. L., Carroll, J., Fishman, G. A., Sauer, A., Sharp, D., Summerfelt, P., Williams, V., Dubis, A. M., Kohl, S., & Wong, F. (2013). . Translational vision science & technology, 2(2), 4. https://doi.org/10.1167/tvst.2.2.4
Vincent, Andrea L, et al. "." Translational vision science & technology vol. 2,2 (2013): 4. doi: https://doi.org/10.1167/tvst.2.2.4
Vincent AL, Carroll J, Fishman GA, Sauer A, Sharp D, Summerfelt P, Williams V, Dubis AM, Kohl S, Wong F. . Transl Vis Sci Technol. 2013 Feb;2(2):4. doi: 10.1167/tvst.2.2.4. Epub 2013 Mar 13. PMID: 24049715; PMCID: PMC3763889.
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Transl Vis Sci Technol. 2013 Feb;2(2):4. doi: 10.1167/tvst.2.2.4. Epub 2013 Mar 13.

[No title available]

Translational vision science & technology

Andrea L Vincent, Joseph Carroll, Gerald A Fishman, Alexandra Sauer, Dianne Sharp, Phyllis Summerfelt, Vesper Williams, Adam M Dubis, Susanne Kohl, Fulton Wong

Affiliations

  1. Department of Ophthalmology, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand ; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.

PMID: 24049715 PMCID: PMC3763889 DOI: 10.1167/tvst.2.2.4

Abstract

PURPOSE: To ascertain the potential pathogenicity of a retinitis pigmentosa (RP)-causing

METHODS: Case series/observational study that included two patients with ACHM and 24 extended family members. Molecular genetic analysis was performed to identify

RESULTS: Five carriers of the

CONCLUSIONS: The

TRANSLATIONAL RELEVANCE: The combined approach of comprehensive molecular analysis of individual genomes and noninvasive cellular resolution retinal imaging enhances the current repertoire of clinical diagnostic tools, giving a substantial impetus to personalized medicine.

Keywords: adaptive optics; exome sequencing; retinal degeneration; retinitis pigmentosa; rhodopsin mutations

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