Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis

PURPOSE: To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with ectopia lentis (EL) and to predict the structural and functional consequences of the mutation. METHODS: Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations. Gen...

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Detalles Bibliográficos
Autores principales: Li, Hongyi, Qu, Wei, Meng, Bo, Zhang, Shuihua, Yang, Tao, Huang, Shangzhi, Yuan, Huiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291523/
https://www.ncbi.nlm.nih.gov/pubmed/22393277

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