Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis

PURPOSE: To identify the genetic defect in a Chinese family with autosomal dominant inherited ectopia lentis. METHODS: twenty-one family members, including seven patients underwent general physical and fully ophthalmic examinations. Genomic DNA was extracted from leukocytes of venous blood of these...

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Detalles Bibliográficos
Autores principales: Liang, Chen, Fan, Wei, Wu, Sisi, Liu, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249434/
https://www.ncbi.nlm.nih.gov/pubmed/22219643

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