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Mutation spectrum in a cohort with familial exudative vitreoretinopathy

Qu, N; Li, W; Han, DM; Gao, JY; Yang, ZT; Jiang, L; Liu, TB; Chen, YX; Jiang, XS; Zhou, L; Wu, JH; Huang, X

Zhou, L (通讯作者),Peking Univ, Shenzhen Hosp, Ctr Reprod Med, Guangdong & Shenzhen Key Lab Reprod Med & Genet, Shenzhen 518000, Peoples R China.;Li, W (通讯作者),Univ Chinese Acad Sci, Coll Life Sci, Beijing 100049, Peoples R China.;Wu, JH; Huang, X (通讯作者),Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, Shanghai 200031, Peoples R China.

MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (9):

Abstract

Purpose: To expand the mutation spectrum of patients with familial exudative vitreoretinopathy (FEVR) disease. Participants: 74 probands (53 families ......

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