Open AccessRole of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations
Author(s) -
Scott H. Greenwald,
James A. Kuchenbecker,
Jessica S. Rowlan,
Jay Neitz,
Maureen Neitz
Publication year - 2017
Publication title -
translational vision science and technology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.508
H-Index - 21
ISSN - 2164-2591
DOI - 10.1167/tvst.6.3.2
Subject(s) - rna splicing , dystrophy , opsin , cone (formal languages) , genetics , biology , mutation , medicine , ophthalmology , computer science , gene , rhodopsin , retinal , rna , algorithm
The mechanism by which individual mutations contribute to clinical phenotypes provides valuable information for diagnosis and prognosis of vision disorders associated with / interchange mutations, and it informs strategies for developing therapies.
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