The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS

Leber congenital amaurosis (LCA) is a group of severe congenital retinal diseases. Variants in the guanylate cyclase 2D gene (GUCY2D), which encodes guanylate cyclase 1 (ROS-GC1), are associated with LCA1 and account for 6%–21% of all LCA cases. In this study, one family with LCA1 was recruited from...

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Detalles Bibliográficos
Autores principales: Feng, Xue, Wei, Tianying, Sun, Junhui, Luo, Yuqin, Huo, Yanan, Yu, Ping, Chen, Jiao, Wei, Xiaoming, Qi, Ming, Ye, Yinghui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138296/
https://www.ncbi.nlm.nih.gov/pubmed/32255808
http://dx.doi.org/10.1371/journal.pone.0231115

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