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[Mutation analysis of FOXL2 gene and its structure protein in patients of blepharophimosis-ptosis-epicanthus inversus syndrome].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Jun 2007

Lin Li-Xin, Tang Sheng-Jian, Wang Xiao-Ke, Sun Yan, Wang Yan-Li

Abstract excerpt

OBJECTIVE: The aim of this study was to investigate the effect of mutations of the forkhead transcription factor 2 (FOXL2) gene on the primary and secondary structure of the coded protein and seek for the molecular mechanism of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: The genomic DNA was extracted from peripheral blood of 7 clinically diagnosed BPES patients, PCR amplification of...

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Source

Identifiers

PMID: 17897532

Genes

FOXL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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