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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Detalhes bibliográficos
Publicado no:Ann Lab Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2017
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5587829/
https://ncbi.nlm.nih.gov/pubmed/28840994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2017.37.6.536
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