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An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI

PURPOSE: To characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD). METHODS: Three generations of the family with RBCD were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chai...

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Detalhes bibliográficos
Main Authors: Li, Dandan, Qi, Yanhua, Wang, Li, Lin, Hui, Zhou, Nan, Zhao, Liming
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2467519/
https://ncbi.nlm.nih.gov/pubmed/18636123
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