Article
[TGFBI gene mutation analysis in a Chinese family with Thiel-Behnke corneal dystrophy].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Aug 2007
Qi Yan-hua, He Hong-dan, Li Ying, Wang Li, Lin Hui, Su Hong, Gu Jing-zhi, Huang Shang-zhi
Abstract excerpt
OBJECTIVE: To identify the gene mutation in autosomal dominant Thiel-Behnke corneal dystrophy affecting a five-generation Chinese family. To study the TGFBI gene mutation in Chinese patients with Thiel-Behnke corneal dystrophy by molecular genetic analysis. METHODS: Ophthalmologic examinations were performed in 10 patients and two normal family members in an autosomal dominant Thiel-Behnke corneal dystrophy...
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