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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
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 |
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