TULP1 Mutations Causing Early-Onset Retinal Degeneration: Preserved but Insensitive Macular Cones

PURPOSE. To investigate visual function and outer and inner retinal structure in the rare form of retinal degeneration (RD) caused by TULP1 (tubby-like protein 1) mutations. METHODS. Retinal degeneration patients with TULP1 mutations (n = 5; age range, 5–36 years) were studied by kinetic and chromat...

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Publicat a:Invest Ophthalmol Vis Sci
Autors principals: Jacobson, Samuel G., Cideciyan, Artur V., Huang, Wei Chieh, Sumaroka, Alexander, Roman, Alejandro J., Schwartz, Sharon B., Luo, Xunda, Sheplock, Rebecca, Dauber, Joanna M., Swider, Malgorzata, Stone, Edwin M.
Format: Artigo
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2014
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4580213/
https://ncbi.nlm.nih.gov/pubmed/25074776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.14-14570
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