Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology

BACKGROUND: Hereditary retinopathy is a significant cause of blindness worldwide. Despite the discovery of many mutations in various retinopathies, a large number of patients remain genetically undiagnosed. Targeted next-generation sequencing of the human genome is a suitable approach for the molecu...

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Detalles Bibliográficos
Autores principales: Bai, Zhouxian, Xie, Yanchuan, Liu, Lina, Shao, Jingzhi, Liu, Yuying, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008643/
https://www.ncbi.nlm.nih.gov/pubmed/33781268
http://dx.doi.org/10.1186/s12920-021-00935-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008643/
https://www.ncbi.nlm.nih.gov/pubmed/33781268
http://dx.doi.org/10.1186/s12920-021-00935-w

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