Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia

Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands...

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Detalles Bibliográficos
Autores principales: Bae, Kunho, Song, Ju Sun, Lee, Chung, Kim, Nayoung K.D., Park, Woong-Yang, Kim, Byoung Joon, Ki, Chang-Seok, Kim, Sang Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500744/
https://www.ncbi.nlm.nih.gov/pubmed/28643494
http://dx.doi.org/10.3343/alm.2017.37.5.438

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500744/
https://www.ncbi.nlm.nih.gov/pubmed/28643494
http://dx.doi.org/10.3343/alm.2017.37.5.438

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