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Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype |
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| Authors: | Stephen H. Tsang Tomas Burke Maris Oll Suzanne Yzer Winston Lee Yajing Xie Rando Allikmets |
| Affiliation: | 1 Department of Ophthalmology, Columbia University, New York, New York;2 Department of Pathology & Cell Biology, Columbia University, New York, New York;3 Department of Ophthalmology, Stoke Mandeville Hospital, Aylesbury, Buckinghamshire, United Kingdom;4 University Eye Clinic, Tartu University, Tartu, Estonia;5 Rotterdam Eye Hospital, Rotterdam, The Netherlands |
| Abstract: | |
| Keywords: | CME, cystoid macular edema ERG, electroretinogram FAF, fundus autofluorescence LCA, Leber congenital amaurosis MP-1, microperimetry 1 MUPP1, multi-PDZ domain protein-1 RP, retinitis pigmentosa RPE, retinal pigment epithelium SD-OCT, spectral-domain optical coherence tomography SNP, single nucleotide polymorphism |
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