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Article

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.

Molecular genetics & genomic medicine - 1 Sept 2022

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

Abstract excerpt

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 sequencing. METHODS: Panel-based targeted screening was performed on all subjects. Before sanger sequencing, variants...

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Identifiers

PMID: 35876299
DOI: 10.1002/mgg3.2021
PMCID: PMC9482396

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