Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy

Stargardt-like macular dystrophy 4 (STGD4) is a rare macular dystrophy characterized by bull's eye atrophy of the macula and the underlying retinal pigment epithelium. Patients with STGD4 show decreased central vision, which often progresses to severe vision loss. The PROM1 gene encodes promini...

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Detalles Bibliográficos
Autores principales: Kim, Jong Min, Lee, Chung, Lee, Ga-In, Kim, Nayoung K. D., Ki, Chang-Seok, Park, Woong-Yang, Kim, Byoung Joon, Kim, Sang Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2017
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587829/
https://www.ncbi.nlm.nih.gov/pubmed/28840994
http://dx.doi.org/10.3343/alm.2017.37.6.536

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587829/
https://www.ncbi.nlm.nih.gov/pubmed/28840994
http://dx.doi.org/10.3343/alm.2017.37.6.536

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