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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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| Udgivet i: | Ann Lab Med |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Korean Society for Laboratory Medicine
2017
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| Fag: | |
| Online adgang: | 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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