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[Analysis of TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2017

Guan Tao, Zhang Lingjie, Xu Dejian, Wu Haijian, Zheng Libin

Abstract excerpt

OBJECTIVE: To analyze the clinical features and TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy. METHODS: Genomic DNA was extracted from 53 members including 9 patients from the family. The 17 exons and splice region of introns of the TGFBI gene were amplified by PCR and directly sequenced. All family members were subjected to ophthalmologic examination. RESULTS: A...

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Corneal Dystrophies, Hereditary
TGFBI gene
Mutation
Sequence Analysis, DNA
Transforming Growth Factor beta1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28981920
DOI: 10.3760/cma.j.issn.1003-9406.2017.05.001

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TGFBI

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

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