Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families

PURPOSE: To identify the molecular defects in the fibrillin-1 gene (FBN1) in two Chinese families with ectopia lentis (EL) and marfanoid habitus. METHODS: Five patients and eight non-carriers in the two families underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA wa...

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Detalles Bibliográficos
Autores principales: Zhao, Liming, Liang, Ting, Xu, Jianzhen, Lin, Hui, Li, Dandan, Qi, Yanhua
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672146/
https://www.ncbi.nlm.nih.gov/pubmed/19390640

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