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A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing.
Chen, Bin-Bin; Zhai, Yi; Huo, Ya-Nan; Yang, Shuo; Zhang, Zhi-Yong.
Afiliación
  • Chen BB; Eye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People's Republic of China.
  • Zhai Y; Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
  • Huo YN; Eye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People's Republic of China.
  • Yang S; Eye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People's Republic of China.
  • Zhang ZY; Eye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People's Republic of China.
Ophthalmic Genet ; 43(1): 97-103, 2022 02.
Article en En | MEDLINE | ID: mdl-34809537
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Amaurosis Congénita de Leber Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Amaurosis Congénita de Leber Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido