Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia

ARR3 has been associated with X-linked, female-limited, high myopia. However, using exome sequencing (ES), we identified the first high myopia case with hemizygous ARR3-related mutation in a male patient in a Southern Chinese family. This novel truncated mutation (ARR3: c.569C>G, p.S190*) co-segr...

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Detalles Bibliográficos
Autores principales: Yuan, Dejian, Yan, Tizhen, Luo, Shiqiang, Huang, Jun, Tan, Jianqiang, Zhang, Jianping, Zhang, Victor Wei, Lan, Yueyuan, Hu, Taobo, Guo, Jing, Huang, Mingwei, Zeng, Dingyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8710690/
https://www.ncbi.nlm.nih.gov/pubmed/34966409
http://dx.doi.org/10.3389/fgene.2021.765503

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8710690/
https://www.ncbi.nlm.nih.gov/pubmed/34966409
http://dx.doi.org/10.3389/fgene.2021.765503

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