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Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy
PURPOSE: To identify novel mutations in FZD4 and to investigate their pathogenicity in a cohort of Chinese patients with familial exudative vitreoretinopathy (FEVR). METHODS: Next-generation sequencing was performed in patients with a clinical diagnosis of FEVR. Wide-field angiography was performed...
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| Gepubliceerd in: | Mol Vis |
|---|---|
| Hoofdauteurs: | , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Molecular Vision
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6377376/ https://ncbi.nlm.nih.gov/pubmed/30820142 |
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