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Article

[Analysis of pathological mutation in a Chinese pedigree affected with familial exudative vitreoretinopathy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Su Ning, Qin Litao, Wang Hongdan, Xiao Hai, Guo Qiannan, Li Tao, Liao Shixiu

Abstract excerpt

OBJECTIVE: To detect potential mutation in a Chinese pedigree affected with familial exudative vitreoretinopathy (FEVR). METHODS: Clinical data of the pedigree was collected. Coding regions of candidate genes were amplified by PCR and subjected to next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing and segregation analysis. RESULTS: Two novel heterozygous mutations (c.1695dupC...

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Source

Identifiers

PMID: 29652990
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.010

Genes

LRP5

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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