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Mutation spectrum in a cohort with familial exudative vitreoretinopathy

PURPOSE: To expand the mutation spectrum of patients with familial exudative vitreoretinopathy (FEVR) disease. PARTICIPANTS: 74 probands (53 families and 21 sporadic probands) with familial exudative vitreoretinopathy (FEVR) disease and their available family members (n = 188) were recruited for seq...

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Detalles Bibliográficos
Autores principales: Qu, Ning, Li, Wei, Han, Dong‐Ming, Gao, Jia‐Yu, Yang, Zheng‐Tao, Jiang, Li, Liu, Tian‐Bin, Chen, Yan‐Xian, Jiang, Xiao‐Sen, Zhou, Liang, Wu, Ji‐Hong, Huang, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482396/
https://www.ncbi.nlm.nih.gov/pubmed/35876299
http://dx.doi.org/10.1002/mgg3.2021