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[Analysis of TGFBI gene mutation in a Chinese pedigree affected with lattice corneal dystrophy].

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

Duan Honghui, Zheng Libin, Wu Haijian, Xu Dejian, Guan Tao

Abstract excerpt

OBJECTIVE: To explore the clinical features and mutation of TGFBI gene in a Chinese pedigree affected with lattice corneal dystrophy (LCD). METHODS: Genomic DNA was extracted from 35 members including 11 patients from the pedigree. The 17 exons and splicing region of introns of the TGFBI gene were amplified by PCR. The products were directly sequenced and compared with GenBank database to identify potential...

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Source

Identifiers

PMID: 30098247
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.013

Genes

TGFBI

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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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