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Article

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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2009

Li Dan-dan, Qi Yan-hua, Han Qing, Lin Hui, Zhao Li-ming, Zhang Chun-mei

Abstract excerpt

OBJECTIVE: To identify the TGFBI gene mutation and the relationship between genotype and phenotype of a Chinese family with atypical Reis-Buckler corneal dystrophy (RBCD). METHODS: Four patients, two non-carrier relatives of the family were enrolled in the present study. In addition to ophthalmologic examinations, PCR amplification and DNA sequencing of exons 4, 11, 12, and 14 of the TGFBI gene were carried out....

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Source

Identifiers

PMID: 19504432
DOI: 10.3760/cma.j.issn.1003-9406.2009.03.002

Genes

TGFBI

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