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Article

TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

Molecular vision - 31 Mar 2010

Ma Ke, Liu Guo, Yang Yin, Yu Man, Sui Ruifang, Yu Wenhan, Chen Xiaoming, Deng Yinping, Yan Naihong, Cao Guiqun, Liu Xuyang

Abstract excerpt

PURPOSE: To analyze transforming growth factor beta-induced (TGFBI) gene mutations in a Chinese pedigree with Reis-Bücklers dystrophy (RBCD). METHODS: In a four-generation Chinese family with Reis-Bücklers dystrophy, six members were patients and the rest were unaffected. All members of the family underwent complete ophthalmologic examinations. Exons of TGFBI were amplified by polymerase chain reaction,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20360992
PMCID: PMC2847680

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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