Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

Adult-onset vitelliform macular dystrophy (AVMD) is a common and benign macular degeneration which can be caused by BEST1 mutation. Here, we investigated the clinical characteristics associated with a newly identified BEST1 mutation, p.Ile38Ser and confirmed the associated physiological functional d...

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Bibliografische gegevens
Gepubliceerd in:Sci Rep
Hoofdauteurs: Jun, Ikhyun, Lee, Joon Suk, Lee, Ji Hwan, Lee, Christopher Seungkyu, Choi, Seung-il, Gee, Heon Yung, Lee, Min Goo, Kim, Eung Kweon
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group UK 2017
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5567297/
https://ncbi.nlm.nih.gov/pubmed/28831140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-09629-9
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