Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2017 |
| Outros Autores: | , , , , , , , , , , |
| Tipo de documento: | Artigo de conferência |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da UNIFESP |
| Texto Completo: | https://iovs.arvojournals.org/article.aspx?articleid=2638549 https://repositorio.unifesp.br/handle/11600/54392 |
Resumo: | Coll Med, Mol & Human Genet, Houston, TX 77030 USA |
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Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigeneColl Med, Mol & Human Genet, Houston, TX 77030 USABaylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USAUniv Texas Southwestern Med Ctr Dallas, Retina Fdn Southwest, Dallas, TX 75390 USAUniv Texas Southwestern Med Ctr Dallas, Dept Ophthalmol, Dallas, TX 75390 USAOphthalmol Ctr Minas Gerais, Dept Retina & Vitreous, Belo Horizonte, MG, BrazilEscola Paulista Med, Dept Ophthalmol & Visual Sci, Sao Paulo, BrazilShanghai Jiao Tong Univ, Sch Med, Xin Hua Hosp, Dept Ophthalmol, Shanghai, Peoples R ChinaPeking Union Med Coll, Dept Ophthalmol, Beijing, Peoples R ChinaMcGill Univ, Ctr Hlth, Dept Ophthalmol, Montreal, PQ, CanadaMcGill Univ, Ctr Hlth, Dept Paediat Surg, Montreal, PQ, CanadaEscola Paulista Med, Dept Ophthalmol & Visual Sci, Sao Paulo, BrazilWeb of ScienceR25 GM69234R25 GM69234Assoc Research Vision Ophthalmology Inc2020-07-13T11:53:06Z2020-07-13T11:53:06Z2017info:eu-repo/semantics/conferenceObjectinfo:eu-repo/semantics/publishedVersion-https://iovs.arvojournals.org/article.aspx?articleid=2638549Investigative Ophthalmology & Visual Science. Rockville, v. 58, n. 8, p. -, 2017.0146-0404https://repositorio.unifesp.br/handle/11600/54392WOS:000432176306019engInvestigative Ophthalmology & Visual ScienceAnnual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO)Rockvilleinfo:eu-repo/semantics/openAccessBranch, JustinSoens, ZacharyLi, YumeiWang, KeqingXu, MingchuBirch, David G.Porto, Fernanda Belga OttoniSallum, Juliana M. F. [ [UNIFESP]Zhao, PeiquanSui, RuifangKoenekoop, Robert K.Chen, Ruireponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2022-02-10T22:06:09Zoai:repositorio.unifesp.br/:11600/54392Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652022-02-10T22:06:09Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
| dc.title.none.fl_str_mv |
Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene |
| title |
Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene |
| spellingShingle |
Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene Branch, Justin |
| title_short |
Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene |
| title_full |
Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene |
| title_fullStr |
Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene |
| title_full_unstemmed |
Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene |
| title_sort |
Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene |
| author |
Branch, Justin |
| author_facet |
Branch, Justin Soens, Zachary Li, Yumei Wang, Keqing Xu, Mingchu Birch, David G. Porto, Fernanda Belga Ottoni Sallum, Juliana M. F. [ [UNIFESP] Zhao, Peiquan Sui, Ruifang Koenekoop, Robert K. Chen, Rui |
| author_role |
author |
| author2 |
Soens, Zachary Li, Yumei Wang, Keqing Xu, Mingchu Birch, David G. Porto, Fernanda Belga Ottoni Sallum, Juliana M. F. [ [UNIFESP] Zhao, Peiquan Sui, Ruifang Koenekoop, Robert K. Chen, Rui |
| author2_role |
author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Branch, Justin Soens, Zachary Li, Yumei Wang, Keqing Xu, Mingchu Birch, David G. Porto, Fernanda Belga Ottoni Sallum, Juliana M. F. [ [UNIFESP] Zhao, Peiquan Sui, Ruifang Koenekoop, Robert K. Chen, Rui |
| description |
Coll Med, Mol & Human Genet, Houston, TX 77030 USA |
| publishDate |
2017 |
| dc.date.none.fl_str_mv |
2017 2020-07-13T11:53:06Z 2020-07-13T11:53:06Z |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/conferenceObject |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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conferenceObject |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
https://iovs.arvojournals.org/article.aspx?articleid=2638549 Investigative Ophthalmology & Visual Science. Rockville, v. 58, n. 8, p. -, 2017. 0146-0404 https://repositorio.unifesp.br/handle/11600/54392 WOS:000432176306019 |
| url |
https://iovs.arvojournals.org/article.aspx?articleid=2638549 https://repositorio.unifesp.br/handle/11600/54392 |
| identifier_str_mv |
Investigative Ophthalmology & Visual Science. Rockville, v. 58, n. 8, p. -, 2017. 0146-0404 WOS:000432176306019 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
Investigative Ophthalmology & Visual Science Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO) |
| dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
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- |
| dc.coverage.none.fl_str_mv |
Rockville |
| dc.publisher.none.fl_str_mv |
Assoc Research Vision Ophthalmology Inc |
| publisher.none.fl_str_mv |
Assoc Research Vision Ophthalmology Inc |
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reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
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Universidade Federal de São Paulo (UNIFESP) |
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UNIFESP |
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UNIFESP |
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Repositório Institucional da UNIFESP |
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Repositório Institucional da UNIFESP |
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Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
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biblioteca.csp@unifesp.br |
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1814268267594776576 |