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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Detalles Bibliográficos
Autores principales: Tian, Tian, Zhang, Xiang, Zhang, Qi, Zhao, Peiquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377376/
https://www.ncbi.nlm.nih.gov/pubmed/30820142

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377376/
https://www.ncbi.nlm.nih.gov/pubmed/30820142

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