Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

BACKGROUND: To report the clinical and genetic findings from seven Chinese patients with choroideremia. METHODS: Five hundred seventy-eight patients with a clinically suspected diagnosis of retinitis pigmentosa (RP) underwent comprehensive ophthalmic examinations. Next-generation sequencing (NGS) wa...

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Detalles Bibliográficos
Autores principales: Gao, Feng-Juan, Tian, Guo-Hong, Hu, Fang-Yuan, Wang, Dan-Dan, Li, Jian-Kang, Chang, Qing, Chen, Fang, Xu, Ge-Zhi, Liu, Wei, Wu, Ji-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268499/
https://www.ncbi.nlm.nih.gov/pubmed/32487042
http://dx.doi.org/10.1186/s12886-020-01478-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268499/
https://www.ncbi.nlm.nih.gov/pubmed/32487042
http://dx.doi.org/10.1186/s12886-020-01478-x

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