Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene

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dc.citation.issue8
dc.citation.volume58
dc.contributor.authorBranch, Justin
dc.contributor.authorSoens, Zachary
dc.contributor.authorLi, Yumei
dc.contributor.authorWang, Keqing
dc.contributor.authorXu, Mingchu
dc.contributor.authorBirch, David G.
dc.contributor.authorPorto, Fernanda Belga Ottoni
dc.contributor.authorSallum, Juliana M. F. [ [UNIFESP]
dc.contributor.authorZhao, Peiquan
dc.contributor.authorSui, Ruifang
dc.contributor.authorKoenekoop, Robert K.
dc.contributor.authorChen, Rui
dc.coverageRockville
dc.date.accessioned2020-07-13T11:53:06Z
dc.date.available2020-07-13T11:53:06Z
dc.date.issued2017
dc.description.affiliationColl Med, Mol & Human Genet, Houston, TX 77030 USA
dc.description.affiliationBaylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
dc.description.affiliationUniv Texas Southwestern Med Ctr Dallas, Retina Fdn Southwest, Dallas, TX 75390 USA
dc.description.affiliationUniv Texas Southwestern Med Ctr Dallas, Dept Ophthalmol, Dallas, TX 75390 USA
dc.description.affiliationOphthalmol Ctr Minas Gerais, Dept Retina & Vitreous, Belo Horizonte, MG, Brazil
dc.description.affiliationEscola Paulista Med, Dept Ophthalmol & Visual Sci, Sao Paulo, Brazil
dc.description.affiliationShanghai Jiao Tong Univ, Sch Med, Xin Hua Hosp, Dept Ophthalmol, Shanghai, Peoples R China
dc.description.affiliationPeking Union Med Coll, Dept Ophthalmol, Beijing, Peoples R China
dc.description.affiliationMcGill Univ, Ctr Hlth, Dept Ophthalmol, Montreal, PQ, Canada
dc.description.affiliationMcGill Univ, Ctr Hlth, Dept Paediat Surg, Montreal, PQ, Canada
dc.description.affiliationUnifespEscola Paulista Med, Dept Ophthalmol & Visual Sci, Sao Paulo, Brazil
dc.description.provenanceMade available in DSpace on 2020-07-13T11:53:06Z (GMT). No. of bitstreams: 0 Previous issue date: 2017en
dc.description.sourceWeb of Science
dc.description.sponsorshipR25 GM69234
dc.description.sponsorshipIDR25 GM69234
dc.format.extent-
dc.identifierhttps://iovs.arvojournals.org/article.aspx?articleid=2638549
dc.identifier.citationInvestigative Ophthalmology & Visual Science. Rockville, v. 58, n. 8, p. -, 2017.
dc.identifier.issn0146-0404
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/54392
dc.identifier.wosWOS:000432176306019
dc.language.isoeng
dc.publisherAssoc Research Vision Ophthalmology Inc
dc.relation.ispartofInvestigative Ophthalmology & Visual Science
dc.relation.ispartofAnnual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO)
dc.rightsAcesso aberto
dc.titleValidating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigeneen
dc.typeTrabalho apresentado em evento
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