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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Pubblicato in:PLoS One
Autori principali: Feng, Xue, Wei, Tianying, Sun, Junhui, Luo, Yuqin, Huo, Yanan, Yu, Ping, Chen, Jiao, Wei, Xiaoming, Qi, Ming, Ye, Yinghui
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2020
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7138296/
https://ncbi.nlm.nih.gov/pubmed/32255808
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0231115
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