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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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Bibliografische gegevens
Gepubliceerd in:Ann Lab Med
Hoofdauteurs: Kim, Jong Min, Lee, Chung, Lee, Ga-In, Kim, Nayoung K. D., Ki, Chang-Seok, Park, Woong-Yang, Kim, Byoung Joon, Kim, Sang Jin
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The Korean Society for Laboratory Medicine 2017
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Online toegang: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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