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Article

Integrative analytical and statistical framework for optimization of multiplex qPCR detection of TGFBI mutations in refractive surgery candidates.

Journal of Zhejiang University. Science. B - 15 Jun 2026

Gu Yunfeng, Mao Liping, Li Xiaoling, Sun Kangxuan, Jiang Qiuruo, Wu Wenhui, Shen Yangyang, Chen Shihao, Zheng Meiqin, Xu Yi

Abstract excerpt

Refractive surgery can unmask or accelerate transforming growth factor-β-induced (TGFBI)-related corneal dystrophies that are undetectable by routine slit-lamp examination, creating a clear need for a rapid, standardized, preoperative genetic screening. We developed a multiplex, allele-specific real-time quantitative polymerase chain reaction (qPCR) panel targeting five high-frequency TGFBI hotspots (R124C/L/H,...

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Share to Corneal Dystrophies, Hereditary
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42343637
DOI: 10.1631/jzus.B2500747
PMCID: PMC13294284

Genes

TGFBI

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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