Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa

BACKGROUND: To investigate the clinical findings of choroideremia patients and perform genetic analysis by whole-exome sequencing (WES). METHODS: A total of 94 patients initially diagnosed with retinitis pigmentosa (RP) at another hospital, and who visited our hospital for genetic analysis by WES, w...

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Detalles Bibliográficos
Autores principales: Kim, Jin Ha, Han, Jung Woo, Choi, Eun Woo, Bang, Ji Hong, Shin, Hee Jeong, Jang, Mi-Ae, Lee, Jong-Young, Choi, Jeong Nam, Chang, Hun Soo, Park, Tae Kwann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8763878/
https://www.ncbi.nlm.nih.gov/pubmed/35040292
http://dx.doi.org/10.3346/jkms.2022.37.e5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8763878/
https://www.ncbi.nlm.nih.gov/pubmed/35040292
http://dx.doi.org/10.3346/jkms.2022.37.e5

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