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 perform...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Molecular Vision
2019-02-01
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Series: | Molecular Vision |
Subjects: | |
Online Access: | http://www.molvis.org/molvis/v25/60/ |