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

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 u...

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Main Authors: Ma, Ke, Liu, Guo, Yang, Yin, Yu, Man, Sui, Ruifang, Yu, Wenhan, Chen, Xiaoming, Deng, Yinping, Yan, Naihong, Cao, Guiqun, Liu, Xuyang
Format: Artigo
Language:Inglês
Published: Molecular Vision 2010
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2847680/
https://ncbi.nlm.nih.gov/pubmed/20360992
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